nsv442937
- Organism: Homo sapiens
- Study:nstd22 (McCarroll et al. 2008)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:26
- Validation:Not tested
- Clinical Assertions: No
- Region Size:50,147
- Publication(s):McCarroll et al. 2008
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1526 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 1526 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 18 SVs from 9 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv442937 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 103,566,616 | 103,616,762 |
| nsv442937 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 104,109,238 | 104,159,384 |
| nsv442937 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000001.8 | Chr1 | 103,821,259 | 103,871,405 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv1618218 | copy number gain | NA10859 | SNP array | Probe signal intensity | 3 | 153 |
| nssv1618219 | copy number gain | NA11881 | SNP array | Probe signal intensity | 3 | 144 |
| nssv1618220 | copy number gain | NA12155 | SNP array | Probe signal intensity | 3 | 152 |
| nssv1618221 | copy number gain | NA12239 | SNP array | Probe signal intensity | 3 | 165 |
| nssv1618222 | copy number gain | NA12753 | SNP array | Probe signal intensity | 3 | 168 |
| nssv1618223 | copy number gain | NA12763 | SNP array | Probe signal intensity | 3 | 170 |
| nssv1618225 | copy number gain | NA12873 | SNP array | Probe signal intensity | 3 | 158 |
| nssv1618226 | copy number gain | NA18517 | SNP array | Probe signal intensity | 3 | 151 |
| nssv1618227 | copy number gain | NA18859 | SNP array | Probe signal intensity | 3 | 166 |
| nssv1618228 | copy number gain | NA18871 | SNP array | Probe signal intensity | 3 | 174 |
| nssv1618229 | copy number gain | NA18913 | SNP array | Probe signal intensity | 3 | 196 |
| nssv1618230 | copy number gain | NA18914 | SNP array | Probe signal intensity | 3 | 165 |
| nssv1618231 | copy number gain | NA19099 | SNP array | Probe signal intensity | 3 | 181 |
| nssv1618232 | copy number gain | NA19100 | SNP array | Probe signal intensity | 3 | 188 |
| nssv1618233 | copy number gain | NA19120 | SNP array | Probe signal intensity | 4 | 179 |
| nssv1618234 | copy number gain | NA19128 | SNP array | Probe signal intensity | 3 | 177 |
| nssv1618236 | copy number gain | NA19137 | SNP array | Probe signal intensity | 3 | 210 |
| nssv1618237 | copy number gain | NA19152 | SNP array | Probe signal intensity | 4 | 194 |
| nssv1618238 | copy number gain | NA19154 | SNP array | Probe signal intensity | 3 | 161 |
| nssv1618239 | copy number gain | NA19159 | SNP array | Probe signal intensity | 4 | 195 |
| nssv1618240 | copy number gain | NA19171 | SNP array | Probe signal intensity | 3 | 179 |
| nssv1618241 | copy number gain | NA19173 | SNP array | Probe signal intensity | 3 | 177 |
| nssv1618242 | copy number gain | NA19200 | SNP array | Probe signal intensity | 4 | 184 |
| nssv1618243 | copy number gain | NA19202 | SNP array | Probe signal intensity | 4 | 213 |
| nssv1618244 | copy number gain | NA19221 | SNP array | Probe signal intensity | 3 | 185 |
| nssv1618245 | copy number gain | NA19222 | SNP array | Probe signal intensity | 3 | 182 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1618218 | Remapped | Perfect | NC_000001.11:g.(?_ 103566616)_(103616 762_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,566,616 | 103,616,762 |
| nssv1618219 | Remapped | Perfect | NC_000001.11:g.(?_ 103566616)_(103616 762_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,566,616 | 103,616,762 |
| nssv1618220 | Remapped | Perfect | NC_000001.11:g.(?_ 103566616)_(103616 762_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,566,616 | 103,616,762 |
| nssv1618221 | Remapped | Perfect | NC_000001.11:g.(?_ 103566616)_(103616 762_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,566,616 | 103,616,762 |
| nssv1618222 | Remapped | Perfect | NC_000001.11:g.(?_ 103566616)_(103616 762_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,566,616 | 103,616,762 |
| nssv1618223 | Remapped | Perfect | NC_000001.11:g.(?_ 103566616)_(103616 762_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,566,616 | 103,616,762 |
| nssv1618225 | Remapped | Perfect | NC_000001.11:g.(?_ 103566616)_(103616 762_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,566,616 | 103,616,762 |
| nssv1618226 | Remapped | Perfect | NC_000001.11:g.(?_ 103566616)_(103616 762_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,566,616 | 103,616,762 |
| nssv1618227 | Remapped | Perfect | NC_000001.11:g.(?_ 103566616)_(103616 762_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,566,616 | 103,616,762 |
| nssv1618228 | Remapped | Perfect | NC_000001.11:g.(?_ 103566616)_(103616 762_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,566,616 | 103,616,762 |
| nssv1618229 | Remapped | Perfect | NC_000001.11:g.(?_ 103566616)_(103616 762_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,566,616 | 103,616,762 |
| nssv1618230 | Remapped | Perfect | NC_000001.11:g.(?_ 103566616)_(103616 762_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,566,616 | 103,616,762 |
| nssv1618231 | Remapped | Perfect | NC_000001.11:g.(?_ 103566616)_(103616 762_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,566,616 | 103,616,762 |
| nssv1618232 | Remapped | Perfect | NC_000001.11:g.(?_ 103566616)_(103616 762_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,566,616 | 103,616,762 |
| nssv1618233 | Remapped | Perfect | NC_000001.11:g.(?_ 103566616)_(103616 762_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,566,616 | 103,616,762 |
| nssv1618234 | Remapped | Perfect | NC_000001.11:g.(?_ 103566616)_(103616 762_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,566,616 | 103,616,762 |
| nssv1618236 | Remapped | Perfect | NC_000001.11:g.(?_ 103566616)_(103616 762_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,566,616 | 103,616,762 |
| nssv1618237 | Remapped | Perfect | NC_000001.11:g.(?_ 103566616)_(103616 762_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,566,616 | 103,616,762 |
| nssv1618238 | Remapped | Perfect | NC_000001.11:g.(?_ 103566616)_(103616 762_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,566,616 | 103,616,762 |
| nssv1618239 | Remapped | Perfect | NC_000001.11:g.(?_ 103566616)_(103616 762_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,566,616 | 103,616,762 |
| nssv1618240 | Remapped | Perfect | NC_000001.11:g.(?_ 103566616)_(103616 762_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,566,616 | 103,616,762 |
| nssv1618241 | Remapped | Perfect | NC_000001.11:g.(?_ 103566616)_(103616 762_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,566,616 | 103,616,762 |
| nssv1618242 | Remapped | Perfect | NC_000001.11:g.(?_ 103566616)_(103616 762_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,566,616 | 103,616,762 |
| nssv1618243 | Remapped | Perfect | NC_000001.11:g.(?_ 103566616)_(103616 762_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,566,616 | 103,616,762 |
| nssv1618244 | Remapped | Perfect | NC_000001.11:g.(?_ 103566616)_(103616 762_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,566,616 | 103,616,762 |
| nssv1618245 | Remapped | Perfect | NC_000001.11:g.(?_ 103566616)_(103616 762_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,566,616 | 103,616,762 |
| nssv1618218 | Remapped | Perfect | NC_000001.10:g.(?_ 104109238)_(104159 384_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 104,109,238 | 104,159,384 |
| nssv1618219 | Remapped | Perfect | NC_000001.10:g.(?_ 104109238)_(104159 384_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 104,109,238 | 104,159,384 |
| nssv1618220 | Remapped | Perfect | NC_000001.10:g.(?_ 104109238)_(104159 384_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 104,109,238 | 104,159,384 |
| nssv1618221 | Remapped | Perfect | NC_000001.10:g.(?_ 104109238)_(104159 384_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 104,109,238 | 104,159,384 |
| nssv1618222 | Remapped | Perfect | NC_000001.10:g.(?_ 104109238)_(104159 384_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 104,109,238 | 104,159,384 |
| nssv1618223 | Remapped | Perfect | NC_000001.10:g.(?_ 104109238)_(104159 384_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 104,109,238 | 104,159,384 |
| nssv1618225 | Remapped | Perfect | NC_000001.10:g.(?_ 104109238)_(104159 384_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 104,109,238 | 104,159,384 |
| nssv1618226 | Remapped | Perfect | NC_000001.10:g.(?_ 104109238)_(104159 384_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 104,109,238 | 104,159,384 |
| nssv1618227 | Remapped | Perfect | NC_000001.10:g.(?_ 104109238)_(104159 384_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 104,109,238 | 104,159,384 |
| nssv1618228 | Remapped | Perfect | NC_000001.10:g.(?_ 104109238)_(104159 384_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 104,109,238 | 104,159,384 |
| nssv1618229 | Remapped | Perfect | NC_000001.10:g.(?_ 104109238)_(104159 384_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 104,109,238 | 104,159,384 |
| nssv1618230 | Remapped | Perfect | NC_000001.10:g.(?_ 104109238)_(104159 384_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 104,109,238 | 104,159,384 |
| nssv1618231 | Remapped | Perfect | NC_000001.10:g.(?_ 104109238)_(104159 384_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 104,109,238 | 104,159,384 |
| nssv1618232 | Remapped | Perfect | NC_000001.10:g.(?_ 104109238)_(104159 384_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 104,109,238 | 104,159,384 |
| nssv1618233 | Remapped | Perfect | NC_000001.10:g.(?_ 104109238)_(104159 384_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 104,109,238 | 104,159,384 |
| nssv1618234 | Remapped | Perfect | NC_000001.10:g.(?_ 104109238)_(104159 384_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 104,109,238 | 104,159,384 |
| nssv1618236 | Remapped | Perfect | NC_000001.10:g.(?_ 104109238)_(104159 384_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 104,109,238 | 104,159,384 |
| nssv1618237 | Remapped | Perfect | NC_000001.10:g.(?_ 104109238)_(104159 384_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 104,109,238 | 104,159,384 |
| nssv1618238 | Remapped | Perfect | NC_000001.10:g.(?_ 104109238)_(104159 384_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 104,109,238 | 104,159,384 |
| nssv1618239 | Remapped | Perfect | NC_000001.10:g.(?_ 104109238)_(104159 384_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 104,109,238 | 104,159,384 |
| nssv1618240 | Remapped | Perfect | NC_000001.10:g.(?_ 104109238)_(104159 384_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 104,109,238 | 104,159,384 |
| nssv1618241 | Remapped | Perfect | NC_000001.10:g.(?_ 104109238)_(104159 384_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 104,109,238 | 104,159,384 |
| nssv1618242 | Remapped | Perfect | NC_000001.10:g.(?_ 104109238)_(104159 384_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 104,109,238 | 104,159,384 |
| nssv1618243 | Remapped | Perfect | NC_000001.10:g.(?_ 104109238)_(104159 384_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 104,109,238 | 104,159,384 |
| nssv1618244 | Remapped | Perfect | NC_000001.10:g.(?_ 104109238)_(104159 384_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 104,109,238 | 104,159,384 |
| nssv1618245 | Remapped | Perfect | NC_000001.10:g.(?_ 104109238)_(104159 384_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 104,109,238 | 104,159,384 |
| nssv1618218 | Submitted genomic | NC_000001.8:g.(?_1 03821259)_(1038714 05_?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 103,821,259 | 103,871,405 | ||
| nssv1618219 | Submitted genomic | NC_000001.8:g.(?_1 03821259)_(1038714 05_?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 103,821,259 | 103,871,405 | ||
| nssv1618220 | Submitted genomic | NC_000001.8:g.(?_1 03821259)_(1038714 05_?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 103,821,259 | 103,871,405 | ||
| nssv1618221 | Submitted genomic | NC_000001.8:g.(?_1 03821259)_(1038714 05_?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 103,821,259 | 103,871,405 | ||
| nssv1618222 | Submitted genomic | NC_000001.8:g.(?_1 03821259)_(1038714 05_?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 103,821,259 | 103,871,405 | ||
| nssv1618223 | Submitted genomic | NC_000001.8:g.(?_1 03821259)_(1038714 05_?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 103,821,259 | 103,871,405 | ||
| nssv1618225 | Submitted genomic | NC_000001.8:g.(?_1 03821259)_(1038714 05_?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 103,821,259 | 103,871,405 | ||
| nssv1618226 | Submitted genomic | NC_000001.8:g.(?_1 03821259)_(1038714 05_?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 103,821,259 | 103,871,405 | ||
| nssv1618227 | Submitted genomic | NC_000001.8:g.(?_1 03821259)_(1038714 05_?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 103,821,259 | 103,871,405 | ||
| nssv1618228 | Submitted genomic | NC_000001.8:g.(?_1 03821259)_(1038714 05_?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 103,821,259 | 103,871,405 | ||
| nssv1618229 | Submitted genomic | NC_000001.8:g.(?_1 03821259)_(1038714 05_?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 103,821,259 | 103,871,405 | ||
| nssv1618230 | Submitted genomic | NC_000001.8:g.(?_1 03821259)_(1038714 05_?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 103,821,259 | 103,871,405 | ||
| nssv1618231 | Submitted genomic | NC_000001.8:g.(?_1 03821259)_(1038714 05_?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 103,821,259 | 103,871,405 | ||
| nssv1618232 | Submitted genomic | NC_000001.8:g.(?_1 03821259)_(1038714 05_?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 103,821,259 | 103,871,405 | ||
| nssv1618233 | Submitted genomic | NC_000001.8:g.(?_1 03821259)_(1038714 05_?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 103,821,259 | 103,871,405 | ||
| nssv1618234 | Submitted genomic | NC_000001.8:g.(?_1 03821259)_(1038714 05_?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 103,821,259 | 103,871,405 | ||
| nssv1618236 | Submitted genomic | NC_000001.8:g.(?_1 03821259)_(1038714 05_?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 103,821,259 | 103,871,405 | ||
| nssv1618237 | Submitted genomic | NC_000001.8:g.(?_1 03821259)_(1038714 05_?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 103,821,259 | 103,871,405 | ||
| nssv1618238 | Submitted genomic | NC_000001.8:g.(?_1 03821259)_(1038714 05_?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 103,821,259 | 103,871,405 | ||
| nssv1618239 | Submitted genomic | NC_000001.8:g.(?_1 03821259)_(1038714 05_?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 103,821,259 | 103,871,405 | ||
| nssv1618240 | Submitted genomic | NC_000001.8:g.(?_1 03821259)_(1038714 05_?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 103,821,259 | 103,871,405 | ||
| nssv1618241 | Submitted genomic | NC_000001.8:g.(?_1 03821259)_(1038714 05_?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 103,821,259 | 103,871,405 | ||
| nssv1618242 | Submitted genomic | NC_000001.8:g.(?_1 03821259)_(1038714 05_?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 103,821,259 | 103,871,405 | ||
| nssv1618243 | Submitted genomic | NC_000001.8:g.(?_1 03821259)_(1038714 05_?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 103,821,259 | 103,871,405 | ||
| nssv1618244 | Submitted genomic | NC_000001.8:g.(?_1 03821259)_(1038714 05_?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 103,821,259 | 103,871,405 | ||
| nssv1618245 | Submitted genomic | NC_000001.8:g.(?_1 03821259)_(1038714 05_?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 103,821,259 | 103,871,405 |