nsv6627203
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:35,708
- 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: 645 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 964 SVs from 94 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6627203 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 268,428 | 304,135 |
nsv6627203 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 24,374,253 | 24,410,374 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18317144 | duplication | OSC8313 | SNP array | Probe signal intensity | 8 |
nssv18317652 | duplication | OSC8623 | SNP array | Probe signal intensity | 7 |
nssv18317711 | duplication | OSC8396 | SNP array | Probe signal intensity | 8 |
nssv18317723 | duplication | OSC8406 | SNP array | Probe signal intensity | 9 |
nssv18317922 | duplication | OSC8553 | SNP array | Probe signal intensity | 10 |
nssv18318831 | duplication | OSC8785 | SNP array | Probe signal intensity | 9 |
nssv18318923 | duplication | OSC8614 | SNP array | Probe signal intensity | 12 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18317144 | Remapped | Good | NT_187633.1:g.(?_2 68428)_(304135_?)d up | GRCh38.p12 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 268,428 | 304,135 |
nssv18317652 | Remapped | Good | NT_187633.1:g.(?_2 68428)_(304135_?)d up | GRCh38.p12 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 268,428 | 304,135 |
nssv18317711 | Remapped | Good | NT_187633.1:g.(?_2 68428)_(304135_?)d up | GRCh38.p12 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 268,428 | 304,135 |
nssv18317723 | Remapped | Good | NT_187633.1:g.(?_2 68428)_(304135_?)d up | GRCh38.p12 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 268,428 | 304,135 |
nssv18317922 | Remapped | Good | NT_187633.1:g.(?_2 68428)_(304135_?)d up | GRCh38.p12 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 268,428 | 304,135 |
nssv18318831 | Remapped | Good | NT_187633.1:g.(?_2 68428)_(304135_?)d up | GRCh38.p12 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 268,428 | 304,135 |
nssv18318923 | Remapped | Good | NT_187633.1:g.(?_2 68428)_(304135_?)d up | GRCh38.p12 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 268,428 | 304,135 |
nssv18317144 | Submitted genomic | NC_000022.10:g.(?_ 24374253)_(2441037 4_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,374,253 | 24,410,374 | ||
nssv18317652 | Submitted genomic | NC_000022.10:g.(?_ 24374253)_(2441037 4_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,374,253 | 24,410,374 | ||
nssv18317711 | Submitted genomic | NC_000022.10:g.(?_ 24374253)_(2441037 4_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,374,253 | 24,410,374 | ||
nssv18317723 | Submitted genomic | NC_000022.10:g.(?_ 24374253)_(2441037 4_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,374,253 | 24,410,374 | ||
nssv18317922 | Submitted genomic | NC_000022.10:g.(?_ 24374253)_(2441037 4_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,374,253 | 24,410,374 | ||
nssv18318831 | Submitted genomic | NC_000022.10:g.(?_ 24374253)_(2441037 4_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,374,253 | 24,410,374 | ||
nssv18318923 | Submitted genomic | NC_000022.10:g.(?_ 24374253)_(2441037 4_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,374,253 | 24,410,374 |