nsv3919221
- 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:2,916,940
- Description:GRCh38/hg38 12p13.2-12.3(chr12:12363649-15280588)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: 7852 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 7862 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 2131 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3919221 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 12,363,649 | 15,280,588 |
| nsv3919221 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 12,514,722 | 15,433,522 |
| nsv3919221 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 12,405,989 | 15,324,789 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15120354 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000135331.4, VCV000146005.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15120354 | Submitted genomic | NC_000012.12:g.(?_ 12363649)_(1528058 8_?)del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 12,363,649 | 15,280,588 |
| nssv15120354 | Submitted genomic | NC_000012.11:g.(?_ 12514722)_(1543352 2_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 12,514,722 | 15,433,522 |
| nssv15120354 | Submitted genomic | NC_000012.10:g.(?_ 12405989)_(1532478 9_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 12,405,989 | 15,324,789 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15120354 | GRCh37: NC_000012.11:g.(?_12514722)_(15433522_?)del, GRCh38: NC_000012.12:g.(?_12363649)_(15280588_?)del, NCBI36: NC_000012.10:g.(?_12405989)_(15324789_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000135331.4, VCV000146005.1 | 1 |