nsv3922290
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:2,750,062
- Description:GRCh38/hg38 6q22.31-22.33(chr6:125021773-127771834)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 5422 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 5422 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 1319 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922290 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 125,021,773 | 127,771,834 |
| nsv3922290 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 125,342,919 | 128,092,979 |
| nsv3922290 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 125,384,618 | 128,134,672 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15135996 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000137920.6, VCV000148855.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15135996 | Submitted genomic | NC_000006.12:g.(?_ 125021773)_(127771 834_?)del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 125,021,773 | 127,771,834 |
| nssv15135996 | Submitted genomic | NC_000006.11:g.(?_ 125342919)_(128092 979_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 125,342,919 | 128,092,979 |
| nssv15135996 | Submitted genomic | NC_000006.10:g.(?_ 125384618)_(128134 672_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 125,384,618 | 128,134,672 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15135996 | GRCh37: NC_000006.11:g.(?_125342919)_(128092979_?)del, GRCh38: NC_000006.12:g.(?_125021773)_(127771834_?)del, NCBI36: NC_000006.10:g.(?_125384618)_(128134672_?)del | copy number loss | maternal | See cases | Uncertain significance | ClinVar | RCV000137920.6, VCV000148855.2 | 1 |