nsv6629754
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:17
- Validation:Not tested
- Clinical Assertions: No
- Region Size:125,046
- Publication(s):Zarrei et al. 2023
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: 1586 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 1589 SVs from 99 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6629754 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 9,369,390 | 9,494,435 |
| nsv6629754 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 9,371,116 | 9,496,079 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18286194 | deletion | OSC2886 | SNP array | Probe signal intensity | nssv18285616, nssv18285618, nssv18286518 |
| nssv18286572 | deletion | OSC2911 | SNP array | Probe signal intensity | 9 |
| nssv18286654 | deletion | OSC2977 | SNP array | Probe signal intensity | 8 |
| nssv18297333 | deletion | OSC4682 | SNP array | Probe signal intensity | 5 |
| nssv18297963 | deletion | OSC4943 | SNP array | Probe signal intensity | nssv18297962, nssv18298608 |
| nssv18298036 | deletion | OSC5007 | SNP array | Probe signal intensity | 7 |
| nssv18299524 | deletion | OSC5168 | SNP array | Probe signal intensity | 8 |
| nssv18300322 | deletion | OSC5526 | SNP array | Probe signal intensity | nssv18301218, nssv18301217, nssv18300929 |
| nssv18300814 | deletion | OSC5444 | SNP array | Probe signal intensity | 9 |
| nssv18301767 | duplication | OSC5724 | SNP array | Probe signal intensity | 10 |
| nssv18302025 | deletion | OSC5649 | SNP array | Probe signal intensity | nssv18301668, nssv18301669 |
| nssv18309596 | deletion | OSC0750 | SNP array | Probe signal intensity | 5 |
| nssv18318843 | deletion | OSC0917 | SNP array | Probe signal intensity | 7 |
| nssv18321119 | duplication | OSC1167 | SNP array | Probe signal intensity | 10 |
| nssv18323080 | duplication | OSC1444 | SNP array | Probe signal intensity | 7 |
| nssv18323693 | deletion | OSC0178 | SNP array | Probe signal intensity | 6 |
| nssv18325965 | deletion | OSC1989 | SNP array | Probe signal intensity | 7 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18286194 | Remapped | Good | NC_000004.12:g.(?_ 9369390)_(9494435_ ?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 9,369,390 | 9,494,435 |
| nssv18286572 | Remapped | Good | NC_000004.12:g.(?_ 9369390)_(9494435_ ?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 9,369,390 | 9,494,435 |
| nssv18286654 | Remapped | Good | NC_000004.12:g.(?_ 9369390)_(9494435_ ?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 9,369,390 | 9,494,435 |
| nssv18297333 | Remapped | Good | NC_000004.12:g.(?_ 9369390)_(9494435_ ?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 9,369,390 | 9,494,435 |
| nssv18297963 | Remapped | Good | NC_000004.12:g.(?_ 9369390)_(9494435_ ?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 9,369,390 | 9,494,435 |
| nssv18298036 | Remapped | Good | NC_000004.12:g.(?_ 9369390)_(9494435_ ?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 9,369,390 | 9,494,435 |
| nssv18299524 | Remapped | Good | NC_000004.12:g.(?_ 9369390)_(9494435_ ?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 9,369,390 | 9,494,435 |
| nssv18300322 | Remapped | Good | NC_000004.12:g.(?_ 9369390)_(9494435_ ?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 9,369,390 | 9,494,435 |
| nssv18300814 | Remapped | Good | NC_000004.12:g.(?_ 9369390)_(9494435_ ?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 9,369,390 | 9,494,435 |
| nssv18301767 | Remapped | Good | NC_000004.12:g.(?_ 9369390)_(9494435_ ?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 9,369,390 | 9,494,435 |
| nssv18302025 | Remapped | Good | NC_000004.12:g.(?_ 9369390)_(9494435_ ?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 9,369,390 | 9,494,435 |
| nssv18309596 | Remapped | Good | NC_000004.12:g.(?_ 9369390)_(9494435_ ?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 9,369,390 | 9,494,435 |
| nssv18318843 | Remapped | Good | NC_000004.12:g.(?_ 9369390)_(9494435_ ?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 9,369,390 | 9,494,435 |
| nssv18321119 | Remapped | Good | NC_000004.12:g.(?_ 9369390)_(9494435_ ?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 9,369,390 | 9,494,435 |
| nssv18323080 | Remapped | Good | NC_000004.12:g.(?_ 9369390)_(9494435_ ?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 9,369,390 | 9,494,435 |
| nssv18323693 | Remapped | Good | NC_000004.12:g.(?_ 9369390)_(9494435_ ?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 9,369,390 | 9,494,435 |
| nssv18325965 | Remapped | Good | NC_000004.12:g.(?_ 9369390)_(9494435_ ?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 9,369,390 | 9,494,435 |
| nssv18286194 | Submitted genomic | NC_000004.11:g.(?_ 9371116)_(9496079_ ?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 9,371,116 | 9,496,079 | ||
| nssv18286572 | Submitted genomic | NC_000004.11:g.(?_ 9371116)_(9496079_ ?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 9,371,116 | 9,496,079 | ||
| nssv18286654 | Submitted genomic | NC_000004.11:g.(?_ 9371116)_(9496079_ ?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 9,371,116 | 9,496,079 | ||
| nssv18297333 | Submitted genomic | NC_000004.11:g.(?_ 9371116)_(9496079_ ?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 9,371,116 | 9,496,079 | ||
| nssv18297963 | Submitted genomic | NC_000004.11:g.(?_ 9371116)_(9496079_ ?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 9,371,116 | 9,496,079 | ||
| nssv18298036 | Submitted genomic | NC_000004.11:g.(?_ 9371116)_(9496079_ ?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 9,371,116 | 9,496,079 | ||
| nssv18299524 | Submitted genomic | NC_000004.11:g.(?_ 9371116)_(9496079_ ?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 9,371,116 | 9,496,079 | ||
| nssv18300322 | Submitted genomic | NC_000004.11:g.(?_ 9371116)_(9496079_ ?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 9,371,116 | 9,496,079 | ||
| nssv18300814 | Submitted genomic | NC_000004.11:g.(?_ 9371116)_(9496079_ ?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 9,371,116 | 9,496,079 | ||
| nssv18301767 | Submitted genomic | NC_000004.11:g.(?_ 9371116)_(9496079_ ?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 9,371,116 | 9,496,079 | ||
| nssv18302025 | Submitted genomic | NC_000004.11:g.(?_ 9371116)_(9496079_ ?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 9,371,116 | 9,496,079 | ||
| nssv18309596 | Submitted genomic | NC_000004.11:g.(?_ 9371116)_(9496079_ ?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 9,371,116 | 9,496,079 | ||
| nssv18318843 | Submitted genomic | NC_000004.11:g.(?_ 9371116)_(9496079_ ?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 9,371,116 | 9,496,079 | ||
| nssv18321119 | Submitted genomic | NC_000004.11:g.(?_ 9371116)_(9496079_ ?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 9,371,116 | 9,496,079 | ||
| nssv18323080 | Submitted genomic | NC_000004.11:g.(?_ 9371116)_(9496079_ ?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 9,371,116 | 9,496,079 | ||
| nssv18323693 | Submitted genomic | NC_000004.11:g.(?_ 9371116)_(9496079_ ?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 9,371,116 | 9,496,079 | ||
| nssv18325965 | Submitted genomic | NC_000004.11:g.(?_ 9371116)_(9496079_ ?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 9,371,116 | 9,496,079 |