nsv3896986
- 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:166,463
- Description:GRCh38/hg38 2q37.1(chr2:232376206-232542668)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: 801 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 801 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 260 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3896986 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 232,376,206 | 232,542,668 |
| nsv3896986 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 233,240,916 | 233,407,378 |
| nsv3896986 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 232,949,160 | 233,115,622 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139026 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000142606.4, VCV000154539.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15139026 | Submitted genomic | NC_000002.12:g.(?_ 232376206)_(232542 668_?)dup | GRCh38 (hg38) | NC_000002.12 | Chr2 | 232,376,206 | 232,542,668 |
| nssv15139026 | Submitted genomic | NC_000002.11:g.(?_ 233240916)_(233407 378_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 233,240,916 | 233,407,378 |
| nssv15139026 | Submitted genomic | NC_000002.10:g.(?_ 232949160)_(233115 622_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 232,949,160 | 233,115,622 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15139026 | GRCh37: NC_000002.11:g.(?_233240916)_(233407378_?)dup, GRCh38: NC_000002.12:g.(?_232376206)_(232542668_?)dup, NCBI36: NC_000002.10:g.(?_232949160)_(233115622_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000142606.4, VCV000154539.2 | 3 |