nsv3913000
- 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:1,164,888
- Description:GRCh38/hg38 22q13.1(chr22:37721777-38886664)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: 3433 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 3434 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 765 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 |
|---|---|---|---|---|---|---|---|
| nsv3913000 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 37,721,777 | 38,886,664 |
| nsv3913000 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 38,117,784 | 39,282,669 |
| nsv3913000 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000022.9 | Chr22 | 36,447,730 | 37,612,615 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146351 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051367.4, VCV000057632.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146351 | Submitted genomic | NC_000022.11:g.(?_ 37721777)_(3888666 4_?)del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 37,721,777 | 38,886,664 |
| nssv15146351 | Submitted genomic | NC_000022.10:g.(?_ 38117784)_(3928266 9_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,117,784 | 39,282,669 |
| nssv15146351 | Submitted genomic | NC_000022.9:g.(?_3 6447730)_(37612615 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 36,447,730 | 37,612,615 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146351 | GRCh37: NC_000022.10:g.(?_38117784)_(39282669_?)del, GRCh38: NC_000022.11:g.(?_37721777)_(38886664_?)del, NCBI36: NC_000022.9:g.(?_36447730)_(37612615_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000051367.4, VCV000057632.1 | 1 |