nsv6627542
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:10
- Validation:Not tested
- Clinical Assertions: No
- Region Size:16,869
- 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: 296 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 296 SVs from 57 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6627542 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 208,170,077 | 208,186,945 |
| nsv6627542 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 209,034,801 | 209,051,669 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18287161 | deletion | OSC3160 | SNP array | Probe signal intensity | 6 |
| nssv18288599 | deletion | OSC3277 | SNP array | Probe signal intensity | 10 |
| nssv18288644 | deletion | OSC3307 | SNP array | Probe signal intensity | 10 |
| nssv18290669 | deletion | OSC3667 | SNP array | Probe signal intensity | 7 |
| nssv18293144 | deletion | OSC4124 | SNP array | Probe signal intensity | nssv18293143, nssv18293142 |
| nssv18295542 | deletion | OSC4523 | SNP array | Probe signal intensity | 9 |
| nssv18310136 | deletion | OSC0761 | SNP array | Probe signal intensity | 6 |
| nssv18321896 | deletion | OSC1264 | SNP array | Probe signal intensity | 5 |
| nssv18323490 | deletion | OSC1534 | SNP array | Probe signal intensity | 6 |
| nssv18325236 | deletion | OSC1860 | SNP array | Probe signal intensity | 8 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18287161 | Remapped | Perfect | NC_000002.12:g.(?_ 208170077)_(208186 945_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 208,170,077 | 208,186,945 |
| nssv18288599 | Remapped | Perfect | NC_000002.12:g.(?_ 208170077)_(208186 945_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 208,170,077 | 208,186,945 |
| nssv18288644 | Remapped | Perfect | NC_000002.12:g.(?_ 208170077)_(208186 945_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 208,170,077 | 208,186,945 |
| nssv18290669 | Remapped | Perfect | NC_000002.12:g.(?_ 208170077)_(208186 945_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 208,170,077 | 208,186,945 |
| nssv18293144 | Remapped | Perfect | NC_000002.12:g.(?_ 208170077)_(208186 945_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 208,170,077 | 208,186,945 |
| nssv18295542 | Remapped | Perfect | NC_000002.12:g.(?_ 208170077)_(208186 945_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 208,170,077 | 208,186,945 |
| nssv18310136 | Remapped | Perfect | NC_000002.12:g.(?_ 208170077)_(208186 945_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 208,170,077 | 208,186,945 |
| nssv18321896 | Remapped | Perfect | NC_000002.12:g.(?_ 208170077)_(208186 945_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 208,170,077 | 208,186,945 |
| nssv18323490 | Remapped | Perfect | NC_000002.12:g.(?_ 208170077)_(208186 945_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 208,170,077 | 208,186,945 |
| nssv18325236 | Remapped | Perfect | NC_000002.12:g.(?_ 208170077)_(208186 945_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 208,170,077 | 208,186,945 |
| nssv18287161 | Submitted genomic | NC_000002.11:g.(?_ 209034801)_(209051 669_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 209,034,801 | 209,051,669 | ||
| nssv18288599 | Submitted genomic | NC_000002.11:g.(?_ 209034801)_(209051 669_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 209,034,801 | 209,051,669 | ||
| nssv18288644 | Submitted genomic | NC_000002.11:g.(?_ 209034801)_(209051 669_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 209,034,801 | 209,051,669 | ||
| nssv18290669 | Submitted genomic | NC_000002.11:g.(?_ 209034801)_(209051 669_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 209,034,801 | 209,051,669 | ||
| nssv18293144 | Submitted genomic | NC_000002.11:g.(?_ 209034801)_(209051 669_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 209,034,801 | 209,051,669 | ||
| nssv18295542 | Submitted genomic | NC_000002.11:g.(?_ 209034801)_(209051 669_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 209,034,801 | 209,051,669 | ||
| nssv18310136 | Submitted genomic | NC_000002.11:g.(?_ 209034801)_(209051 669_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 209,034,801 | 209,051,669 | ||
| nssv18321896 | Submitted genomic | NC_000002.11:g.(?_ 209034801)_(209051 669_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 209,034,801 | 209,051,669 | ||
| nssv18323490 | Submitted genomic | NC_000002.11:g.(?_ 209034801)_(209051 669_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 209,034,801 | 209,051,669 | ||
| nssv18325236 | Submitted genomic | NC_000002.11:g.(?_ 209034801)_(209051 669_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 209,034,801 | 209,051,669 |