nsv6627198
- 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:83,022
- 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: 675 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 1113 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 1553 SVs from 104 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6627198 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NC_000022.11 | Chr22 | 23,960,414 | 24,002,279 |
| nsv6627198 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 196,776 | 279,797 |
| nsv6627198 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 24,302,601 | 24,385,622 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18316681 | deletion | OSC8330 | SNP array | Probe signal intensity | 9 |
| nssv18316687 | deletion | OSC8333 | SNP array | Probe signal intensity | 8 |
| nssv18318573 | deletion | OSC8638 | SNP array | Probe signal intensity | 14 |
| nssv18318725 | deletion | OSC8717 | SNP array | Probe signal intensity | 7 |
| nssv18318935 | deletion | OSC8621 | SNP array | Probe signal intensity | 8 |
| nssv18319705 | deletion | OSC8763 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18316681 | Remapped | Perfect | NT_187633.1:g.(?_1 96776)_(279797_?)d el | GRCh38.p12 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 196,776 | 279,797 |
| nssv18316687 | Remapped | Perfect | NT_187633.1:g.(?_1 96776)_(279797_?)d el | GRCh38.p12 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 196,776 | 279,797 |
| nssv18318573 | Remapped | Perfect | NT_187633.1:g.(?_1 96776)_(279797_?)d el | GRCh38.p12 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 196,776 | 279,797 |
| nssv18318725 | Remapped | Perfect | NT_187633.1:g.(?_1 96776)_(279797_?)d el | GRCh38.p12 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 196,776 | 279,797 |
| nssv18318935 | Remapped | Perfect | NT_187633.1:g.(?_1 96776)_(279797_?)d el | GRCh38.p12 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 196,776 | 279,797 |
| nssv18319705 | Remapped | Perfect | NT_187633.1:g.(?_1 96776)_(279797_?)d el | GRCh38.p12 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 196,776 | 279,797 |
| nssv18316681 | Remapped | Pass | NC_000022.11:g.(?_ 23960414)_(2400227 9_?)del | GRCh38.p12 | Second Pass | NC_000022.11 | Chr22 | 23,960,414 | 24,002,279 |
| nssv18316687 | Remapped | Pass | NC_000022.11:g.(?_ 23960414)_(2400227 9_?)del | GRCh38.p12 | Second Pass | NC_000022.11 | Chr22 | 23,960,414 | 24,002,279 |
| nssv18318573 | Remapped | Pass | NC_000022.11:g.(?_ 23960414)_(2400227 9_?)del | GRCh38.p12 | Second Pass | NC_000022.11 | Chr22 | 23,960,414 | 24,002,279 |
| nssv18318725 | Remapped | Pass | NC_000022.11:g.(?_ 23960414)_(2400227 9_?)del | GRCh38.p12 | Second Pass | NC_000022.11 | Chr22 | 23,960,414 | 24,002,279 |
| nssv18318935 | Remapped | Pass | NC_000022.11:g.(?_ 23960414)_(2400227 9_?)del | GRCh38.p12 | Second Pass | NC_000022.11 | Chr22 | 23,960,414 | 24,002,279 |
| nssv18319705 | Remapped | Pass | NC_000022.11:g.(?_ 23960414)_(2400227 9_?)del | GRCh38.p12 | Second Pass | NC_000022.11 | Chr22 | 23,960,414 | 24,002,279 |
| nssv18316681 | Submitted genomic | NC_000022.10:g.(?_ 24302601)_(2438562 2_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,302,601 | 24,385,622 | ||
| nssv18316687 | Submitted genomic | NC_000022.10:g.(?_ 24302601)_(2438562 2_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,302,601 | 24,385,622 | ||
| nssv18318573 | Submitted genomic | NC_000022.10:g.(?_ 24302601)_(2438562 2_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,302,601 | 24,385,622 | ||
| nssv18318725 | Submitted genomic | NC_000022.10:g.(?_ 24302601)_(2438562 2_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,302,601 | 24,385,622 | ||
| nssv18318935 | Submitted genomic | NC_000022.10:g.(?_ 24302601)_(2438562 2_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,302,601 | 24,385,622 | ||
| nssv18319705 | Submitted genomic | NC_000022.10:g.(?_ 24302601)_(2438562 2_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,302,601 | 24,385,622 |