nsv3902350
- 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:6,799,680
- Description:GRCh38/hg38 2q21.3-22.2(chr2:136045480-142845159)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: 16729 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 16729 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 4666 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3902350 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 136,045,480 | 142,845,159 |
| nsv3902350 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 136,803,050 | 143,602,728 |
| nsv3902350 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 136,519,520 | 143,319,198 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133823 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000136054.5, VCV000146815.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133823 | Submitted genomic | NC_000002.12:g.(?_ 136045480)_(142845 159_?)dup | GRCh38 (hg38) | NC_000002.12 | Chr2 | 136,045,480 | 142,845,159 |
| nssv15133823 | Submitted genomic | NC_000002.11:g.(?_ 136803050)_(143602 728_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 136,803,050 | 143,602,728 |
| nssv15133823 | Submitted genomic | NC_000002.10:g.(?_ 136519520)_(143319 198_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 136,519,520 | 143,319,198 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133823 | GRCh37: NC_000002.11:g.(?_136803050)_(143602728_?)dup, GRCh38: NC_000002.12:g.(?_136045480)_(142845159_?)dup, NCBI36: NC_000002.10:g.(?_136519520)_(143319198_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000136054.5, VCV000146815.2 | 3 |