nsv6622479
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:13
- Validation:Not tested
- Clinical Assertions: No
- Region Size:211,115
- 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: 2883 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 3073 SVs from 105 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6622479 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,956,892 |
| nsv6622479 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 20,213,937 | 20,425,051 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18285714 | duplication | OSC2816 | SNP array | Probe signal intensity | 5 |
| nssv18286107 | duplication | OSC2821 | SNP array | Probe signal intensity | nssv18285519, nssv18286106 |
| nssv18286184 | duplication | OSC2878 | SNP array | Probe signal intensity | 10 |
| nssv18290027 | duplication | OSC3427 | SNP array | Probe signal intensity | 14 |
| nssv18291652 | duplication | OSC3901 | SNP array | Probe signal intensity | 9 |
| nssv18291698 | duplication | OSC3928 | SNP array | Probe signal intensity | 8 |
| nssv18293542 | duplication | OSC4161 | SNP array | Probe signal intensity | nssv18293543, nssv18292968, nssv18292967 |
| nssv18294812 | duplication | OSC4433 | SNP array | Probe signal intensity | 13 |
| nssv18299448 | duplication | OSC5377 | SNP array | Probe signal intensity | nssv18301034, nssv18300136 |
| nssv18300820 | duplication | OSC5448 | SNP array | Probe signal intensity | nssv18300227, nssv18300471, nssv18300470 |
| nssv18318116 | duplication | OSC0887 | SNP array | Probe signal intensity | 8 |
| nssv18322888 | duplication | OSC0155 | SNP array | Probe signal intensity | 7 |
| nssv18324281 | duplication | OSC1645 | SNP array | Probe signal intensity | nssv18323631, nssv18324280, nssv18324567 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18285714 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19956892 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,956,892 |
| nssv18286107 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19956892 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,956,892 |
| nssv18286184 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19956892 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,956,892 |
| nssv18290027 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19956892 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,956,892 |
| nssv18291652 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19956892 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,956,892 |
| nssv18291698 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19956892 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,956,892 |
| nssv18293542 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19956892 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,956,892 |
| nssv18294812 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19956892 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,956,892 |
| nssv18299448 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19956892 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,956,892 |
| nssv18300820 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19956892 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,956,892 |
| nssv18318116 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19956892 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,956,892 |
| nssv18322888 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19956892 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,956,892 |
| nssv18324281 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19956892 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,956,892 |
| nssv18285714 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20425051 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,425,051 | ||
| nssv18286107 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20425051 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,425,051 | ||
| nssv18286184 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20425051 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,425,051 | ||
| nssv18290027 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20425051 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,425,051 | ||
| nssv18291652 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20425051 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,425,051 | ||
| nssv18291698 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20425051 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,425,051 | ||
| nssv18293542 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20425051 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,425,051 | ||
| nssv18294812 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20425051 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,425,051 | ||
| nssv18299448 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20425051 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,425,051 | ||
| nssv18300820 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20425051 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,425,051 | ||
| nssv18318116 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20425051 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,425,051 | ||
| nssv18322888 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20425051 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,425,051 | ||
| nssv18324281 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20425051 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,425,051 |