nsv6627027
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:6
- Validation:Not tested
- Clinical Assertions: No
- Region Size:372,951
- 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: 1491 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 1546 SVs from 80 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6627027 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 16,374,956 | 16,747,906 |
| nsv6627027 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 16,855,618 | 17,228,796 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18281691 | duplication | OSC2088 | SNP array | Probe signal intensity | 6 |
| nssv18286060 | duplication | OSC2782 | SNP array | Probe signal intensity | nssv18285466, nssv18286061 |
| nssv18292958 | duplication | OSC4156 | SNP array | Probe signal intensity | nssv18293192, nssv18293538 |
| nssv18293472 | duplication | OSC4106 | SNP array | Probe signal intensity | 7 |
| nssv18293779 | deletion | OSC4098 | SNP array | Probe signal intensity | 6 |
| nssv18323354 | duplication | OSC1437 | SNP array | Probe signal intensity | 6 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18281691 | Remapped | Good | NC_000022.11:g.(?_ 16374956)_(1674790 6_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,374,956 | 16,747,906 |
| nssv18286060 | Remapped | Good | NC_000022.11:g.(?_ 16374956)_(1674790 6_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,374,956 | 16,747,906 |
| nssv18292958 | Remapped | Good | NC_000022.11:g.(?_ 16374956)_(1674790 6_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,374,956 | 16,747,906 |
| nssv18293472 | Remapped | Good | NC_000022.11:g.(?_ 16374956)_(1674790 6_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,374,956 | 16,747,906 |
| nssv18293779 | Remapped | Good | NC_000022.11:g.(?_ 16374956)_(1674790 6_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,374,956 | 16,747,906 |
| nssv18323354 | Remapped | Good | NC_000022.11:g.(?_ 16374956)_(1674790 6_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,374,956 | 16,747,906 |
| nssv18281691 | Submitted genomic | NC_000022.10:g.(?_ 16855618)_(1722879 6_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 16,855,618 | 17,228,796 | ||
| nssv18286060 | Submitted genomic | NC_000022.10:g.(?_ 16855618)_(1722879 6_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 16,855,618 | 17,228,796 | ||
| nssv18292958 | Submitted genomic | NC_000022.10:g.(?_ 16855618)_(1722879 6_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 16,855,618 | 17,228,796 | ||
| nssv18293472 | Submitted genomic | NC_000022.10:g.(?_ 16855618)_(1722879 6_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 16,855,618 | 17,228,796 | ||
| nssv18293779 | Submitted genomic | NC_000022.10:g.(?_ 16855618)_(1722879 6_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 16,855,618 | 17,228,796 | ||
| nssv18323354 | Submitted genomic | NC_000022.10:g.(?_ 16855618)_(1722879 6_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 16,855,618 | 17,228,796 |