nsv3908112
- 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:51,582,035
- Description:GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)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: 136998 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 136927 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 35278 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3908112 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 190,310,736 | 241,892,770 |
| nsv3908112 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 191,175,462 | 242,834,921 |
| nsv3908112 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 190,883,707 | 242,483,594 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145778 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052959.5, VCV000059159.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15145778 | Submitted genomic | NC_000002.12:g.(?_ 190310736)_(241892 770_?)dup | GRCh38 (hg38) | NC_000002.12 | Chr2 | 190,310,736 | 241,892,770 |
| nssv15145778 | Submitted genomic | NC_000002.11:g.(?_ 191175462)_(242834 921_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 191,175,462 | 242,834,921 |
| nssv15145778 | Submitted genomic | NC_000002.10:g.(?_ 190883707)_(242483 594_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 190,883,707 | 242,483,594 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15145778 | GRCh37: NC_000002.11:g.(?_191175462)_(242834921_?)dup, GRCh38: NC_000002.12:g.(?_190310736)_(241892770_?)dup, NCBI36: NC_000002.10:g.(?_190883707)_(242483594_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000052959.5, VCV000059159.1 | 3 |