nsv3923347
- 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:12,504,819
- Description:GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)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: 48953 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 48769 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 11136 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923347 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 120,697,672 | 133,202,490 |
| nsv3923347 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 121,135,475 | 133,779,076 |
| nsv3923347 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 119,619,858 | 132,289,149 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148827 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000137651.7, VCV000148578.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148827 | Submitted genomic | NC_000012.12:g.(?_ 120697672)_(133202 490_?)dup | GRCh38 (hg38) | NC_000012.12 | Chr12 | 120,697,672 | 133,202,490 |
| nssv15148827 | Submitted genomic | NC_000012.11:g.(?_ 121135475)_(133779 076_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 121,135,475 | 133,779,076 |
| nssv15148827 | Submitted genomic | NC_000012.10:g.(?_ 119619858)_(132289 149_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 119,619,858 | 132,289,149 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148827 | GRCh37: NC_000012.11:g.(?_121135475)_(133779076_?)dup, GRCh38: NC_000012.12:g.(?_120697672)_(133202490_?)dup, NCBI36: NC_000012.10:g.(?_119619858)_(132289149_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000137651.7, VCV000148578.2 | 3 |