nsv6631026
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:23,647
- 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: 1028 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 1029 SVs from 93 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6631026 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 29,864,555 | 29,888,201 |
nsv6631026 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 29,832,332 | 29,855,978 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18286899 | duplication | OSC3000 | SNP array | Probe signal intensity | 8 |
nssv18294932 | duplication | OSC4261 | SNP array | Probe signal intensity | 6 |
nssv18298353 | duplication | OSC4989 | SNP array | Probe signal intensity | 7 |
nssv18299307 | duplication | OSC5255 | SNP array | Probe signal intensity | 6 |
nssv18299494 | duplication | OSC5151 | SNP array | Probe signal intensity | 5 |
nssv18301133 | duplication | OSC5467 | SNP array | Probe signal intensity | 5 |
nssv18318548 | duplication | OSC0900 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv18286899 | Remapped | Perfect | NC_000006.12:g.(?_ 29864555)_(2988820 1_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,864,555 | 29,888,201 |
nssv18294932 | Remapped | Perfect | NC_000006.12:g.(?_ 29864555)_(2988820 1_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,864,555 | 29,888,201 |
nssv18298353 | Remapped | Perfect | NC_000006.12:g.(?_ 29864555)_(2988820 1_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,864,555 | 29,888,201 |
nssv18299307 | Remapped | Perfect | NC_000006.12:g.(?_ 29864555)_(2988820 1_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,864,555 | 29,888,201 |
nssv18299494 | Remapped | Perfect | NC_000006.12:g.(?_ 29864555)_(2988820 1_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,864,555 | 29,888,201 |
nssv18301133 | Remapped | Perfect | NC_000006.12:g.(?_ 29864555)_(2988820 1_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,864,555 | 29,888,201 |
nssv18318548 | Remapped | Perfect | NC_000006.12:g.(?_ 29864555)_(2988820 1_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,864,555 | 29,888,201 |
nssv18286899 | Submitted genomic | NC_000006.11:g.(?_ 29832332)_(2985597 8_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 29,832,332 | 29,855,978 | ||
nssv18294932 | Submitted genomic | NC_000006.11:g.(?_ 29832332)_(2985597 8_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 29,832,332 | 29,855,978 | ||
nssv18298353 | Submitted genomic | NC_000006.11:g.(?_ 29832332)_(2985597 8_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 29,832,332 | 29,855,978 | ||
nssv18299307 | Submitted genomic | NC_000006.11:g.(?_ 29832332)_(2985597 8_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 29,832,332 | 29,855,978 | ||
nssv18299494 | Submitted genomic | NC_000006.11:g.(?_ 29832332)_(2985597 8_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 29,832,332 | 29,855,978 | ||
nssv18301133 | Submitted genomic | NC_000006.11:g.(?_ 29832332)_(2985597 8_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 29,832,332 | 29,855,978 | ||
nssv18318548 | Submitted genomic | NC_000006.11:g.(?_ 29832332)_(2985597 8_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 29,832,332 | 29,855,978 |