nsv519300
- Organism: Homo sapiens
- Study:nstd21 (Shaikh et al. 2009)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:212,669
- Publication(s):Shaikh et al. 2009
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: 1924 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 1924 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 153 SVs from 11 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv519300 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 188,000,286 | 188,212,954 |
| nsv519300 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 188,921,440 | 189,134,108 |
| nsv519300 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000004.9 | Chr4 | 189,296,589 | 189,509,257 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Zygosity |
|---|---|---|---|---|
| nssv655244 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv697630 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv680541 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv699576 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv656925 | copy number gain | SNP array | SNP genotyping analysis | |
| nssv663679 | copy number gain | SNP array | SNP genotyping analysis | |
| nssv696256 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv696505 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv699315 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv655244 | Remapped | Perfect | NC_000004.12:g.(?_ 188000286)_(188014 029_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 188,000,286 | 188,014,029 |
| nssv697630 | Remapped | Perfect | NC_000004.12:g.(?_ 188006668)_(188012 497_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 188,006,668 | 188,012,497 |
| nssv680541 | Remapped | Perfect | NC_000004.12:g.(?_ 188006668)_(188014 029_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 188,006,668 | 188,014,029 |
| nssv699576 | Remapped | Perfect | NC_000004.12:g.(?_ 188010183)_(188014 029_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 188,010,183 | 188,014,029 |
| nssv656925 | Remapped | Perfect | NC_000004.12:g.(?_ 188014029)_(188212 954_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 188,014,029 | 188,212,954 |
| nssv663679 | Remapped | Perfect | NC_000004.12:g.(?_ 188014029)_(188212 954_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 188,014,029 | 188,212,954 |
| nssv696256 | Remapped | Perfect | NC_000004.12:g.(?_ 188100311)_(188108 911_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 188,100,311 | 188,108,911 |
| nssv696505 | Remapped | Perfect | NC_000004.12:g.(?_ 188144780)_(188171 749_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 188,144,780 | 188,171,749 |
| nssv699315 | Remapped | Perfect | NC_000004.12:g.(?_ 188150854)_(188174 086_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 188,150,854 | 188,174,086 |
| nssv655244 | Remapped | Perfect | NC_000004.11:g.(?_ 188921440)_(188935 183_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 188,921,440 | 188,935,183 |
| nssv697630 | Remapped | Perfect | NC_000004.11:g.(?_ 188927822)_(188933 651_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 188,927,822 | 188,933,651 |
| nssv680541 | Remapped | Perfect | NC_000004.11:g.(?_ 188927822)_(188935 183_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 188,927,822 | 188,935,183 |
| nssv699576 | Remapped | Perfect | NC_000004.11:g.(?_ 188931337)_(188935 183_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 188,931,337 | 188,935,183 |
| nssv656925 | Remapped | Perfect | NC_000004.11:g.(?_ 188935183)_(189134 108_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 188,935,183 | 189,134,108 |
| nssv663679 | Remapped | Perfect | NC_000004.11:g.(?_ 188935183)_(189134 108_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 188,935,183 | 189,134,108 |
| nssv696256 | Remapped | Perfect | NC_000004.11:g.(?_ 189021465)_(189030 065_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 189,021,465 | 189,030,065 |
| nssv696505 | Remapped | Perfect | NC_000004.11:g.(?_ 189065934)_(189092 903_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 189,065,934 | 189,092,903 |
| nssv699315 | Remapped | Perfect | NC_000004.11:g.(?_ 189072008)_(189095 240_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 189,072,008 | 189,095,240 |
| nssv655244 | Submitted genomic | NC_000004.9:g.(?_1 89296589)_(1893103 32_?)del | NCBI35 (hg17) | NC_000004.9 | Chr4 | 189,296,589 | 189,310,332 | ||
| nssv697630 | Submitted genomic | NC_000004.9:g.(?_1 89302971)_(1893088 00_?)del | NCBI35 (hg17) | NC_000004.9 | Chr4 | 189,302,971 | 189,308,800 | ||
| nssv680541 | Submitted genomic | NC_000004.9:g.(?_1 89302971)_(1893103 32_?)del | NCBI35 (hg17) | NC_000004.9 | Chr4 | 189,302,971 | 189,310,332 | ||
| nssv699576 | Submitted genomic | NC_000004.9:g.(?_1 89306486)_(1893103 32_?)del | NCBI35 (hg17) | NC_000004.9 | Chr4 | 189,306,486 | 189,310,332 | ||
| nssv656925 | Submitted genomic | NC_000004.9:g.(?_1 89310332)_(1895092 57_?)dup | NCBI35 (hg17) | NC_000004.9 | Chr4 | 189,310,332 | 189,509,257 | ||
| nssv663679 | Submitted genomic | NC_000004.9:g.(?_1 89310332)_(1895092 57_?)dup | NCBI35 (hg17) | NC_000004.9 | Chr4 | 189,310,332 | 189,509,257 | ||
| nssv696256 | Submitted genomic | NC_000004.9:g.(?_1 89396614)_(1894052 14_?)del | NCBI35 (hg17) | NC_000004.9 | Chr4 | 189,396,614 | 189,405,214 | ||
| nssv696505 | Submitted genomic | NC_000004.9:g.(?_1 89441083)_(1894680 52_?)del | NCBI35 (hg17) | NC_000004.9 | Chr4 | 189,441,083 | 189,468,052 | ||
| nssv699315 | Submitted genomic | NC_000004.9:g.(?_1 89447157)_(1894703 89_?)del | NCBI35 (hg17) | NC_000004.9 | Chr4 | 189,447,157 | 189,470,389 |