nsv438199
- Organism: Homo sapiens
- Study:nstd20 (McCarroll et al. 2006)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI34 (hg16)
- Variant Calls:14
- Validation:Not tested
- Clinical Assertions: No
- Region Size:5,062
- Publication(s):McCarroll et al. 2006
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: 435 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 435 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 5 SVs from 1 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv438199 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 27,495,777 | 27,500,838 |
| nsv438199 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 27,648,710 | 27,653,771 |
| nsv438199 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000012.8 | Chr12 | 27,539,977 | 27,545,038 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv470394 | copy number loss | NA18515 | SNP array | SNP genotyping analysis | 13 |
| nssv470395 | copy number loss | NA19160 | SNP array | SNP genotyping analysis | 23 |
| nssv470397 | copy number loss | NA18855 | SNP array | SNP genotyping analysis | 10 |
| nssv470398 | copy number loss | NA18857 | SNP array | SNP genotyping analysis | 12 |
| nssv470399 | copy number loss | NA19171 | SNP array | SNP genotyping analysis | 11 |
| nssv470400 | copy number loss | NA19173 | SNP array | SNP genotyping analysis | 16 |
| nssv470401 | copy number loss | NA19152 | SNP array | SNP genotyping analysis | 9 |
| nssv470402 | copy number loss | NA19154 | SNP array | SNP genotyping analysis | 13 |
| nssv470403 | copy number loss | NA19143 | SNP array | SNP genotyping analysis | 17 |
| nssv470404 | copy number loss | NA19145 | SNP array | SNP genotyping analysis | 21 |
| nssv470405 | copy number loss | NA19099 | SNP array | SNP genotyping analysis | 14 |
| nssv470406 | copy number loss | NA19100 | SNP array | SNP genotyping analysis | 26 |
| nssv470409 | copy number loss | NA19239 | SNP array | SNP genotyping analysis | 11 |
| nssv470410 | copy number loss | NA19240 | SNP array | SNP genotyping analysis | 21 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv470394 | Remapped | Perfect | NC_000012.12:g.(?_ 27495777)_(2749971 7_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 27,495,777 | 27,499,717 |
| nssv470395 | Remapped | Perfect | NC_000012.12:g.(?_ 27495777)_(2749971 7_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 27,495,777 | 27,499,717 |
| nssv470397 | Remapped | Perfect | NC_000012.12:g.(?_ 27495853)_(2750083 8_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 27,495,853 | 27,500,838 |
| nssv470398 | Remapped | Perfect | NC_000012.12:g.(?_ 27495853)_(2750083 8_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 27,495,853 | 27,500,838 |
| nssv470399 | Remapped | Perfect | NC_000012.12:g.(?_ 27495853)_(2750083 8_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 27,495,853 | 27,500,838 |
| nssv470400 | Remapped | Perfect | NC_000012.12:g.(?_ 27495853)_(2750083 8_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 27,495,853 | 27,500,838 |
| nssv470401 | Remapped | Perfect | NC_000012.12:g.(?_ 27495853)_(2750083 8_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 27,495,853 | 27,500,838 |
| nssv470402 | Remapped | Perfect | NC_000012.12:g.(?_ 27495853)_(2750083 8_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 27,495,853 | 27,500,838 |
| nssv470403 | Remapped | Perfect | NC_000012.12:g.(?_ 27495853)_(2750083 8_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 27,495,853 | 27,500,838 |
| nssv470404 | Remapped | Perfect | NC_000012.12:g.(?_ 27495853)_(2750083 8_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 27,495,853 | 27,500,838 |
| nssv470405 | Remapped | Perfect | NC_000012.12:g.(?_ 27495853)_(2750083 8_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 27,495,853 | 27,500,838 |
| nssv470406 | Remapped | Perfect | NC_000012.12:g.(?_ 27495853)_(2750083 8_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 27,495,853 | 27,500,838 |
| nssv470409 | Remapped | Perfect | NC_000012.12:g.(?_ 27495853)_(2750083 8_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 27,495,853 | 27,500,838 |
| nssv470410 | Remapped | Perfect | NC_000012.12:g.(?_ 27495853)_(2750083 8_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 27,495,853 | 27,500,838 |
| nssv470394 | Remapped | Perfect | NC_000012.11:g.(?_ 27648710)_(2765265 0_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 27,648,710 | 27,652,650 |
| nssv470395 | Remapped | Perfect | NC_000012.11:g.(?_ 27648710)_(2765265 0_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 27,648,710 | 27,652,650 |
| nssv470397 | Remapped | Perfect | NC_000012.11:g.(?_ 27648786)_(2765377 1_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 27,648,786 | 27,653,771 |
| nssv470398 | Remapped | Perfect | NC_000012.11:g.(?_ 27648786)_(2765377 1_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 27,648,786 | 27,653,771 |
| nssv470399 | Remapped | Perfect | NC_000012.11:g.(?_ 27648786)_(2765377 1_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 27,648,786 | 27,653,771 |
| nssv470400 | Remapped | Perfect | NC_000012.11:g.(?_ 27648786)_(2765377 1_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 27,648,786 | 27,653,771 |
| nssv470401 | Remapped | Perfect | NC_000012.11:g.(?_ 27648786)_(2765377 1_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 27,648,786 | 27,653,771 |
| nssv470402 | Remapped | Perfect | NC_000012.11:g.(?_ 27648786)_(2765377 1_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 27,648,786 | 27,653,771 |
| nssv470403 | Remapped | Perfect | NC_000012.11:g.(?_ 27648786)_(2765377 1_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 27,648,786 | 27,653,771 |
| nssv470404 | Remapped | Perfect | NC_000012.11:g.(?_ 27648786)_(2765377 1_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 27,648,786 | 27,653,771 |
| nssv470405 | Remapped | Perfect | NC_000012.11:g.(?_ 27648786)_(2765377 1_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 27,648,786 | 27,653,771 |
| nssv470406 | Remapped | Perfect | NC_000012.11:g.(?_ 27648786)_(2765377 1_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 27,648,786 | 27,653,771 |
| nssv470409 | Remapped | Perfect | NC_000012.11:g.(?_ 27648786)_(2765377 1_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 27,648,786 | 27,653,771 |
| nssv470410 | Remapped | Perfect | NC_000012.11:g.(?_ 27648786)_(2765377 1_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 27,648,786 | 27,653,771 |
| nssv470394 | Submitted genomic | NC_000012.8:g.(?_2 7539977)_(27543917 _?)del | NCBI34 (hg16) | NC_000012.8 | Chr12 | 27,539,977 | 27,543,917 | ||
| nssv470395 | Submitted genomic | NC_000012.8:g.(?_2 7539977)_(27543917 _?)del | NCBI34 (hg16) | NC_000012.8 | Chr12 | 27,539,977 | 27,543,917 | ||
| nssv470397 | Submitted genomic | NC_000012.8:g.(?_2 7540053)_(27545038 _?)del | NCBI34 (hg16) | NC_000012.8 | Chr12 | 27,540,053 | 27,545,038 | ||
| nssv470398 | Submitted genomic | NC_000012.8:g.(?_2 7540053)_(27545038 _?)del | NCBI34 (hg16) | NC_000012.8 | Chr12 | 27,540,053 | 27,545,038 | ||
| nssv470399 | Submitted genomic | NC_000012.8:g.(?_2 7540053)_(27545038 _?)del | NCBI34 (hg16) | NC_000012.8 | Chr12 | 27,540,053 | 27,545,038 | ||
| nssv470400 | Submitted genomic | NC_000012.8:g.(?_2 7540053)_(27545038 _?)del | NCBI34 (hg16) | NC_000012.8 | Chr12 | 27,540,053 | 27,545,038 | ||
| nssv470401 | Submitted genomic | NC_000012.8:g.(?_2 7540053)_(27545038 _?)del | NCBI34 (hg16) | NC_000012.8 | Chr12 | 27,540,053 | 27,545,038 | ||
| nssv470402 | Submitted genomic | NC_000012.8:g.(?_2 7540053)_(27545038 _?)del | NCBI34 (hg16) | NC_000012.8 | Chr12 | 27,540,053 | 27,545,038 | ||
| nssv470403 | Submitted genomic | NC_000012.8:g.(?_2 7540053)_(27545038 _?)del | NCBI34 (hg16) | NC_000012.8 | Chr12 | 27,540,053 | 27,545,038 | ||
| nssv470404 | Submitted genomic | NC_000012.8:g.(?_2 7540053)_(27545038 _?)del | NCBI34 (hg16) | NC_000012.8 | Chr12 | 27,540,053 | 27,545,038 | ||
| nssv470405 | Submitted genomic | NC_000012.8:g.(?_2 7540053)_(27545038 _?)del | NCBI34 (hg16) | NC_000012.8 | Chr12 | 27,540,053 | 27,545,038 | ||
| nssv470406 | Submitted genomic | NC_000012.8:g.(?_2 7540053)_(27545038 _?)del | NCBI34 (hg16) | NC_000012.8 | Chr12 | 27,540,053 | 27,545,038 | ||
| nssv470409 | Submitted genomic | NC_000012.8:g.(?_2 7540053)_(27545038 _?)del | NCBI34 (hg16) | NC_000012.8 | Chr12 | 27,540,053 | 27,545,038 | ||
| nssv470410 | Submitted genomic | NC_000012.8:g.(?_2 7540053)_(27545038 _?)del | NCBI34 (hg16) | NC_000012.8 | Chr12 | 27,540,053 | 27,545,038 |