nsv3922119
- 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:3,335,940
- Description:GRCh38/hg38 10q26.13-26.2(chr10:124032888-127368827)x3 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: 8966 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 8710 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 2346 SVs from 33 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|
nsv3922119 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 124,032,888 | 127,368,827 |
nsv3922119 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 125,792,404 | 129,167,091 |
nsv3922119 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 125,782,394 | 129,057,081 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15148104 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000136887.5, VCV000147735.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|
nssv15148104 | Submitted genomic | NC_000010.11:g.(?_ 124032888)_(127368 827_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 124,032,888 | 127,368,827 |
nssv15148104 | Submitted genomic | NC_000010.10:g.(?_ 125792404)_(129167 091_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 125,792,404 | 129,167,091 |
nssv15148104 | Submitted genomic | NC_000010.9:g.(?_1 25782394)_(1290570 81_?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 125,782,394 | 129,057,081 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15148104 | GRCh37: NC_000010.10:g.(?_125792404)_(129167091_?)dup, GRCh38: NC_000010.11:g.(?_124032888)_(127368827_?)dup, NCBI36: NC_000010.9:g.(?_125782394)_(129057081_?)dup | copy number gain | maternal | See cases | Pathogenic | ClinVar | RCV000136887.5, VCV000147735.2 | 3 |