nsv6631479
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:11
- Validation:Not tested
- Clinical Assertions: No
- Region Size:97,917
- 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: 1352 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 1352 SVs from 103 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6631479 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 31,387,925 | 31,485,841 |
| nsv6631479 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 31,355,702 | 31,453,618 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18289862 | duplication | OSC0365 | SNP array | Probe signal intensity | nssv18289294, nssv18290179, nssv18290174 |
| nssv18297788 | deletion | OSC4998 | SNP array | Probe signal intensity | 6 |
| nssv18297867 | duplication | OSC5053 | SNP array | Probe signal intensity | 6 |
| nssv18298105 | deletion | OSC5060 | SNP array | Probe signal intensity | 5 |
| nssv18298430 | duplication | OSC5047 | SNP array | Probe signal intensity | 9 |
| nssv18298918 | deletion | OSC5147 | SNP array | Probe signal intensity | 7 |
| nssv18298952 | deletion | OSC5168 | SNP array | Probe signal intensity | 8 |
| nssv18299074 | deletion | OSC5268 | SNP array | Probe signal intensity | 6 |
| nssv18299186 | deletion | OSC5170 | SNP array | Probe signal intensity | 6 |
| nssv18299335 | deletion | OSC5275 | SNP array | Probe signal intensity | nssv18299087, nssv18299684, nssv18299336 |
| nssv18299634 | deletion | OSC5240 | SNP array | Probe signal intensity | 6 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18289862 | Remapped | Perfect | NC_000006.12:g.(?_ 31387925)_(3148584 1_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,387,925 | 31,485,841 |
| nssv18297788 | Remapped | Perfect | NC_000006.12:g.(?_ 31387925)_(3148584 1_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,387,925 | 31,485,841 |
| nssv18297867 | Remapped | Perfect | NC_000006.12:g.(?_ 31387925)_(3148584 1_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,387,925 | 31,485,841 |
| nssv18298105 | Remapped | Perfect | NC_000006.12:g.(?_ 31387925)_(3148584 1_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,387,925 | 31,485,841 |
| nssv18298430 | Remapped | Perfect | NC_000006.12:g.(?_ 31387925)_(3148584 1_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,387,925 | 31,485,841 |
| nssv18298918 | Remapped | Perfect | NC_000006.12:g.(?_ 31387925)_(3148584 1_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,387,925 | 31,485,841 |
| nssv18298952 | Remapped | Perfect | NC_000006.12:g.(?_ 31387925)_(3148584 1_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,387,925 | 31,485,841 |
| nssv18299074 | Remapped | Perfect | NC_000006.12:g.(?_ 31387925)_(3148584 1_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,387,925 | 31,485,841 |
| nssv18299186 | Remapped | Perfect | NC_000006.12:g.(?_ 31387925)_(3148584 1_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,387,925 | 31,485,841 |
| nssv18299335 | Remapped | Perfect | NC_000006.12:g.(?_ 31387925)_(3148584 1_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,387,925 | 31,485,841 |
| nssv18299634 | Remapped | Perfect | NC_000006.12:g.(?_ 31387925)_(3148584 1_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,387,925 | 31,485,841 |
| nssv18289862 | Submitted genomic | NC_000006.11:g.(?_ 31355702)_(3145361 8_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,355,702 | 31,453,618 | ||
| nssv18297788 | Submitted genomic | NC_000006.11:g.(?_ 31355702)_(3145361 8_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,355,702 | 31,453,618 | ||
| nssv18297867 | Submitted genomic | NC_000006.11:g.(?_ 31355702)_(3145361 8_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,355,702 | 31,453,618 | ||
| nssv18298105 | Submitted genomic | NC_000006.11:g.(?_ 31355702)_(3145361 8_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,355,702 | 31,453,618 | ||
| nssv18298430 | Submitted genomic | NC_000006.11:g.(?_ 31355702)_(3145361 8_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,355,702 | 31,453,618 | ||
| nssv18298918 | Submitted genomic | NC_000006.11:g.(?_ 31355702)_(3145361 8_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,355,702 | 31,453,618 | ||
| nssv18298952 | Submitted genomic | NC_000006.11:g.(?_ 31355702)_(3145361 8_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,355,702 | 31,453,618 | ||
| nssv18299074 | Submitted genomic | NC_000006.11:g.(?_ 31355702)_(3145361 8_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,355,702 | 31,453,618 | ||
| nssv18299186 | Submitted genomic | NC_000006.11:g.(?_ 31355702)_(3145361 8_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,355,702 | 31,453,618 | ||
| nssv18299335 | Submitted genomic | NC_000006.11:g.(?_ 31355702)_(3145361 8_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,355,702 | 31,453,618 | ||
| nssv18299634 | Submitted genomic | NC_000006.11:g.(?_ 31355702)_(3145361 8_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 31,355,702 | 31,453,618 |