nsv3908038
- 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:33,698,740
- Description:GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)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: 94146 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 94129 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 24801 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 |
|---|---|---|---|---|---|---|---|
| nsv3908038 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 12,770 | 33,711,509 |
| nsv3908038 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 12,770 | 33,936,576 |
| nsv3908038 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 2,770 | 33,790,080 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161566 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000141829.8, VCV000153441.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161566 | Submitted genomic | NC_000002.12:g.(?_ 12770)_(33711509_? )dup | GRCh38 (hg38) | NC_000002.12 | Chr2 | 12,770 | 33,711,509 |
| nssv15161566 | Submitted genomic | NC_000002.11:g.(?_ 12770)_(33936576_? )dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 12,770 | 33,936,576 |
| nssv15161566 | Submitted genomic | NC_000002.10:g.(?_ 2770)_(33790080_?) dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 2,770 | 33,790,080 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161566 | GRCh37: NC_000002.11:g.(?_12770)_(33936576_?)dup, GRCh38: NC_000002.12:g.(?_12770)_(33711509_?)dup, NCBI36: NC_000002.10:g.(?_2770)_(33790080_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000141829.8, VCV000153441.2 | 3 |