nsv3921145
- 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:9,746,643
- Description:GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)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: 39175 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 38990 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 9210 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3921145 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 123,444,758 | 133,191,400 |
| nsv3921145 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 123,929,305 | 133,767,986 |
| nsv3921145 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 122,495,258 | 132,278,059 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132361 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051151.8, VCV000057448.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132361 | Submitted genomic | NC_000012.12:g.(?_ 123444758)_(133191 400_?)dup | GRCh38 (hg38) | NC_000012.12 | Chr12 | 123,444,758 | 133,191,400 |
| nssv15132361 | Submitted genomic | NC_000012.11:g.(?_ 123929305)_(133767 986_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 123,929,305 | 133,767,986 |
| nssv15132361 | Submitted genomic | NC_000012.10:g.(?_ 122495258)_(132278 059_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 122,495,258 | 132,278,059 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132361 | GRCh37: NC_000012.11:g.(?_123929305)_(133767986_?)dup, GRCh38: NC_000012.12:g.(?_123444758)_(133191400_?)dup, NCBI36: NC_000012.10:g.(?_122495258)_(132278059_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000051151.8, VCV000057448.1 | 3 |