nsv4382818
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:13
- Validation:Not tested
- Clinical Assertions: No
- Region Size:23,746
- Publication(s):Zarrei et al. 2019
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: 462 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 454 SVs from 68 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4382818 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 97,521,968 | 97,545,713 |
| nsv4382818 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 98,138,431 | 98,162,176 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15619314 | copy number gain | 1-0896-003 | SNP array | Genotyping | 20 |
| nssv15624114 | copy number gain | 1-0259-005 | SNP array | Genotyping | 18 |
| nssv15636890 | copy number gain | 14-0017-002 | SNP array | Genotyping | 26 |
| nssv15637160 | copy number gain | 12-4855-002 | SNP array | Genotyping | 26 |
| nssv15637434 | copy number gain | 13-0095-002 | SNP array | Genotyping | 22 |
| nssv15640992 | copy number gain | 14-0323-001 | SNP array | Genotyping | 21 |
| nssv15641163 | copy number gain | 14-0265-001 | SNP array | Genotyping | 29 |
| nssv15665046 | copy number gain | 14AG1601 | SNP array | Genotyping | 24 |
| nssv15666883 | copy number gain | 7-0136-003 | SNP array | Genotyping | 20 |
| nssv15669835 | copy number loss | 7-0251-003 | SNP array | Genotyping | 21 |
| nssv15671533 | copy number gain | 7-0309-004 | SNP array | Genotyping | 20 |
| nssv15679078 | copy number gain | 242265S | SNP array | Genotyping | 24 |
| nssv15680037 | copy number gain | 229191S | SNP array | Genotyping | 33 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15619314 | Remapped | Perfect | NC_000002.12:g.(?_ 97521968)_(9754571 3_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,521,968 | 97,545,713 |
| nssv15624114 | Remapped | Perfect | NC_000002.12:g.(?_ 97521968)_(9754571 3_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,521,968 | 97,545,713 |
| nssv15636890 | Remapped | Perfect | NC_000002.12:g.(?_ 97521968)_(9754571 3_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,521,968 | 97,545,713 |
| nssv15637160 | Remapped | Perfect | NC_000002.12:g.(?_ 97521968)_(9754571 3_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,521,968 | 97,545,713 |
| nssv15637434 | Remapped | Perfect | NC_000002.12:g.(?_ 97521968)_(9754571 3_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,521,968 | 97,545,713 |
| nssv15640992 | Remapped | Perfect | NC_000002.12:g.(?_ 97521968)_(9754571 3_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,521,968 | 97,545,713 |
| nssv15641163 | Remapped | Perfect | NC_000002.12:g.(?_ 97521968)_(9754571 3_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,521,968 | 97,545,713 |
| nssv15665046 | Remapped | Perfect | NC_000002.12:g.(?_ 97521968)_(9754571 3_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,521,968 | 97,545,713 |
| nssv15666883 | Remapped | Perfect | NC_000002.12:g.(?_ 97521968)_(9754571 3_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,521,968 | 97,545,713 |
| nssv15669835 | Remapped | Perfect | NC_000002.12:g.(?_ 97521968)_(9754571 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,521,968 | 97,545,713 |
| nssv15671533 | Remapped | Perfect | NC_000002.12:g.(?_ 97521968)_(9754571 3_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,521,968 | 97,545,713 |
| nssv15679078 | Remapped | Perfect | NC_000002.12:g.(?_ 97521968)_(9754571 3_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,521,968 | 97,545,713 |
| nssv15680037 | Remapped | Perfect | NC_000002.12:g.(?_ 97521968)_(9754571 3_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,521,968 | 97,545,713 |
| nssv15619314 | Submitted genomic | NC_000002.11:g.(?_ 98138431)_(9816217 6_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,138,431 | 98,162,176 | ||
| nssv15624114 | Submitted genomic | NC_000002.11:g.(?_ 98138431)_(9816217 6_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,138,431 | 98,162,176 | ||
| nssv15636890 | Submitted genomic | NC_000002.11:g.(?_ 98138431)_(9816217 6_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,138,431 | 98,162,176 | ||
| nssv15637160 | Submitted genomic | NC_000002.11:g.(?_ 98138431)_(9816217 6_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,138,431 | 98,162,176 | ||
| nssv15637434 | Submitted genomic | NC_000002.11:g.(?_ 98138431)_(9816217 6_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,138,431 | 98,162,176 | ||
| nssv15640992 | Submitted genomic | NC_000002.11:g.(?_ 98138431)_(9816217 6_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,138,431 | 98,162,176 | ||
| nssv15641163 | Submitted genomic | NC_000002.11:g.(?_ 98138431)_(9816217 6_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,138,431 | 98,162,176 | ||
| nssv15665046 | Submitted genomic | NC_000002.11:g.(?_ 98138431)_(9816217 6_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,138,431 | 98,162,176 | ||
| nssv15666883 | Submitted genomic | NC_000002.11:g.(?_ 98138431)_(9816217 6_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,138,431 | 98,162,176 | ||
| nssv15669835 | Submitted genomic | NC_000002.11:g.(?_ 98138431)_(9816217 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,138,431 | 98,162,176 | ||
| nssv15671533 | Submitted genomic | NC_000002.11:g.(?_ 98138431)_(9816217 6_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,138,431 | 98,162,176 | ||
| nssv15679078 | Submitted genomic | NC_000002.11:g.(?_ 98138431)_(9816217 6_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,138,431 | 98,162,176 | ||
| nssv15680037 | Submitted genomic | NC_000002.11:g.(?_ 98138431)_(9816217 6_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,138,431 | 98,162,176 |