nsv6627467
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:8
- Validation:Not tested
- Clinical Assertions: No
- Region Size:12,751
- 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: 144 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 291 SVs from 58 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6627467 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_3 | First Pass | NT_187682.1 | Chr22|NT_1 87682.1 | 49,653 | 62,403 |
| nsv6627467 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 42,523,314 | 42,536,064 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18305582 | duplication | OSC6493 | SNP array | Probe signal intensity | 8 |
| nssv18306611 | duplication | OSC6567 | SNP array | Probe signal intensity | 11 |
| nssv18307013 | duplication | OSC6602 | SNP array | Probe signal intensity | 10 |
| nssv18307962 | duplication | OSC6853 | SNP array | Probe signal intensity | 6 |
| nssv18308142 | duplication | OSC6740 | SNP array | Probe signal intensity | 10 |
| nssv18309205 | duplication | OSC7058 | SNP array | Probe signal intensity | 9 |
| nssv18310823 | duplication | OSC7308 | SNP array | Probe signal intensity | 10 |
| nssv18317396 | duplication | OSC8443 | SNP array | Probe signal intensity | 11 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18305582 | Remapped | Perfect | NT_187682.1:g.(?_4 9653)_(62403_?)dup | GRCh38.p12 | First Pass | NT_187682.1 | Chr22|NT_1 87682.1 | 49,653 | 62,403 |
| nssv18306611 | Remapped | Perfect | NT_187682.1:g.(?_4 9653)_(62403_?)dup | GRCh38.p12 | First Pass | NT_187682.1 | Chr22|NT_1 87682.1 | 49,653 | 62,403 |
| nssv18307013 | Remapped | Perfect | NT_187682.1:g.(?_4 9653)_(62403_?)dup | GRCh38.p12 | First Pass | NT_187682.1 | Chr22|NT_1 87682.1 | 49,653 | 62,403 |
| nssv18307962 | Remapped | Perfect | NT_187682.1:g.(?_4 9653)_(62403_?)dup | GRCh38.p12 | First Pass | NT_187682.1 | Chr22|NT_1 87682.1 | 49,653 | 62,403 |
| nssv18308142 | Remapped | Perfect | NT_187682.1:g.(?_4 9653)_(62403_?)dup | GRCh38.p12 | First Pass | NT_187682.1 | Chr22|NT_1 87682.1 | 49,653 | 62,403 |
| nssv18309205 | Remapped | Perfect | NT_187682.1:g.(?_4 9653)_(62403_?)dup | GRCh38.p12 | First Pass | NT_187682.1 | Chr22|NT_1 87682.1 | 49,653 | 62,403 |
| nssv18310823 | Remapped | Perfect | NT_187682.1:g.(?_4 9653)_(62403_?)dup | GRCh38.p12 | First Pass | NT_187682.1 | Chr22|NT_1 87682.1 | 49,653 | 62,403 |
| nssv18317396 | Remapped | Perfect | NT_187682.1:g.(?_4 9653)_(62403_?)dup | GRCh38.p12 | First Pass | NT_187682.1 | Chr22|NT_1 87682.1 | 49,653 | 62,403 |
| nssv18305582 | Submitted genomic | NC_000022.10:g.(?_ 42523314)_(4253606 4_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 42,523,314 | 42,536,064 | ||
| nssv18306611 | Submitted genomic | NC_000022.10:g.(?_ 42523314)_(4253606 4_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 42,523,314 | 42,536,064 | ||
| nssv18307013 | Submitted genomic | NC_000022.10:g.(?_ 42523314)_(4253606 4_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 42,523,314 | 42,536,064 | ||
| nssv18307962 | Submitted genomic | NC_000022.10:g.(?_ 42523314)_(4253606 4_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 42,523,314 | 42,536,064 | ||
| nssv18308142 | Submitted genomic | NC_000022.10:g.(?_ 42523314)_(4253606 4_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 42,523,314 | 42,536,064 | ||
| nssv18309205 | Submitted genomic | NC_000022.10:g.(?_ 42523314)_(4253606 4_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 42,523,314 | 42,536,064 | ||
| nssv18310823 | Submitted genomic | NC_000022.10:g.(?_ 42523314)_(4253606 4_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 42,523,314 | 42,536,064 | ||
| nssv18317396 | Submitted genomic | NC_000022.10:g.(?_ 42523314)_(4253606 4_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 42,523,314 | 42,536,064 |