nsv6625918
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:16
- Validation:Not tested
- Clinical Assertions: No
- Region Size:54,284
- 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: 1160 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 1160 SVs from 92 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6625918 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 16,889,836 | 16,944,119 |
| nsv6625918 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 17,216,331 | 17,270,614 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18286588 | duplication | OSC2924 | SNP array | Probe signal intensity | 13 |
| nssv18286724 | duplication | OSC3021 | SNP array | Probe signal intensity | 11 |
| nssv18288573 | duplication | OSC3256 | SNP array | Probe signal intensity | nssv18288003, nssv18288240, nssv18288241 |
| nssv18293521 | duplication | OSC4144 | SNP array | Probe signal intensity | 6 |
| nssv18294477 | duplication | OSC4423 | SNP array | Probe signal intensity | 7 |
| nssv18295013 | duplication | OSC4323 | SNP array | Probe signal intensity | nssv18294354, nssv18294112, nssv18294684 |
| nssv18295550 | duplication | OSC4526 | SNP array | Probe signal intensity | nssv18295865, nssv18295308, nssv18296208 |
| nssv18296719 | duplication | OSC4712 | SNP array | Probe signal intensity | 5 |
| nssv18297599 | deletion | OSC4881 | SNP array | Probe signal intensity | 6 |
| nssv18298717 | deletion | OSC5014 | SNP array | Probe signal intensity | 5 |
| nssv18299704 | deletion | OSC5292 | SNP array | Probe signal intensity | 7 |
| nssv18301481 | deletion | OSC5698 | SNP array | Probe signal intensity | 6 |
| nssv18320677 | duplication | OSC1058 | SNP array | Probe signal intensity | nssv18320052, nssv18320424 |
| nssv18321955 | duplication | OSC1302 | SNP array | Probe signal intensity | 9 |
| nssv18323046 | duplication | OSC1423 | SNP array | Probe signal intensity | 9 |
| nssv18323544 | duplication | OSC1576 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18286588 | Remapped | Perfect | NC_000001.11:g.(?_ 16889836)_(1694411 9_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,889,836 | 16,944,119 |
| nssv18286724 | Remapped | Perfect | NC_000001.11:g.(?_ 16889836)_(1694411 9_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,889,836 | 16,944,119 |
| nssv18288573 | Remapped | Perfect | NC_000001.11:g.(?_ 16889836)_(1694411 9_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,889,836 | 16,944,119 |
| nssv18293521 | Remapped | Perfect | NC_000001.11:g.(?_ 16889836)_(1694411 9_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,889,836 | 16,944,119 |
| nssv18294477 | Remapped | Perfect | NC_000001.11:g.(?_ 16889836)_(1694411 9_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,889,836 | 16,944,119 |
| nssv18295013 | Remapped | Perfect | NC_000001.11:g.(?_ 16889836)_(1694411 9_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,889,836 | 16,944,119 |
| nssv18295550 | Remapped | Perfect | NC_000001.11:g.(?_ 16889836)_(1694411 9_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,889,836 | 16,944,119 |
| nssv18296719 | Remapped | Perfect | NC_000001.11:g.(?_ 16889836)_(1694411 9_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,889,836 | 16,944,119 |
| nssv18297599 | Remapped | Perfect | NC_000001.11:g.(?_ 16889836)_(1694411 9_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,889,836 | 16,944,119 |
| nssv18298717 | Remapped | Perfect | NC_000001.11:g.(?_ 16889836)_(1694411 9_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,889,836 | 16,944,119 |
| nssv18299704 | Remapped | Perfect | NC_000001.11:g.(?_ 16889836)_(1694411 9_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,889,836 | 16,944,119 |
| nssv18301481 | Remapped | Perfect | NC_000001.11:g.(?_ 16889836)_(1694411 9_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,889,836 | 16,944,119 |
| nssv18320677 | Remapped | Perfect | NC_000001.11:g.(?_ 16889836)_(1694411 9_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,889,836 | 16,944,119 |
| nssv18321955 | Remapped | Perfect | NC_000001.11:g.(?_ 16889836)_(1694411 9_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,889,836 | 16,944,119 |
| nssv18323046 | Remapped | Perfect | NC_000001.11:g.(?_ 16889836)_(1694411 9_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,889,836 | 16,944,119 |
| nssv18323544 | Remapped | Perfect | NC_000001.11:g.(?_ 16889836)_(1694411 9_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 16,889,836 | 16,944,119 |
| nssv18286588 | Submitted genomic | NC_000001.10:g.(?_ 17216331)_(1727061 4_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,216,331 | 17,270,614 | ||
| nssv18286724 | Submitted genomic | NC_000001.10:g.(?_ 17216331)_(1727061 4_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,216,331 | 17,270,614 | ||
| nssv18288573 | Submitted genomic | NC_000001.10:g.(?_ 17216331)_(1727061 4_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,216,331 | 17,270,614 | ||
| nssv18293521 | Submitted genomic | NC_000001.10:g.(?_ 17216331)_(1727061 4_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,216,331 | 17,270,614 | ||
| nssv18294477 | Submitted genomic | NC_000001.10:g.(?_ 17216331)_(1727061 4_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,216,331 | 17,270,614 | ||
| nssv18295013 | Submitted genomic | NC_000001.10:g.(?_ 17216331)_(1727061 4_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,216,331 | 17,270,614 | ||
| nssv18295550 | Submitted genomic | NC_000001.10:g.(?_ 17216331)_(1727061 4_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,216,331 | 17,270,614 | ||
| nssv18296719 | Submitted genomic | NC_000001.10:g.(?_ 17216331)_(1727061 4_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,216,331 | 17,270,614 | ||
| nssv18297599 | Submitted genomic | NC_000001.10:g.(?_ 17216331)_(1727061 4_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,216,331 | 17,270,614 | ||
| nssv18298717 | Submitted genomic | NC_000001.10:g.(?_ 17216331)_(1727061 4_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,216,331 | 17,270,614 | ||
| nssv18299704 | Submitted genomic | NC_000001.10:g.(?_ 17216331)_(1727061 4_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,216,331 | 17,270,614 | ||
| nssv18301481 | Submitted genomic | NC_000001.10:g.(?_ 17216331)_(1727061 4_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,216,331 | 17,270,614 | ||
| nssv18320677 | Submitted genomic | NC_000001.10:g.(?_ 17216331)_(1727061 4_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,216,331 | 17,270,614 | ||
| nssv18321955 | Submitted genomic | NC_000001.10:g.(?_ 17216331)_(1727061 4_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,216,331 | 17,270,614 | ||
| nssv18323046 | Submitted genomic | NC_000001.10:g.(?_ 17216331)_(1727061 4_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,216,331 | 17,270,614 | ||
| nssv18323544 | Submitted genomic | NC_000001.10:g.(?_ 17216331)_(1727061 4_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,216,331 | 17,270,614 |