nsv3891560
- 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:15,031,901
- Description:GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)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: 35244 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 35244 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 9283 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 |
---|---|---|---|---|---|---|---|
nsv3891560 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 186,027,472 | 201,059,372 |
nsv3891560 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 186,892,199 | 201,924,095 |
nsv3891560 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 186,600,444 | 201,632,340 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15133754 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000135876.5, VCV000146616.2 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|
nssv15133754 | Submitted genomic | NC_000002.12:g.(?_ 186027472)_(201059 372_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 186,027,472 | 201,059,372 |
nssv15133754 | Submitted genomic | NC_000002.11:g.(?_ 186892199)_(201924 095_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 186,892,199 | 201,924,095 |
nssv15133754 | Submitted genomic | NC_000002.10:g.(?_ 186600444)_(201632 340_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 186,600,444 | 201,632,340 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15133754 | GRCh37: NC_000002.11:g.(?_186892199)_(201924095_?)del, GRCh38: NC_000002.12:g.(?_186027472)_(201059372_?)del, NCBI36: NC_000002.10:g.(?_186600444)_(201632340_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000135876.5, VCV000146616.2 | 1 |