nsv3908628
- 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:14,836,610
- Description:GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)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: 48946 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 48931 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 12831 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 |
|---|---|---|---|---|---|---|---|
| nsv3908628 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 30,342 | 14,866,951 |
| nsv3908628 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 30,342 | 15,007,075 |
| nsv3908628 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 20,342 | 14,924,526 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161739 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052931.8, VCV000059131.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161739 | Submitted genomic | NC_000002.12:g.(?_ 30342)_(14866951_? )dup | GRCh38 (hg38) | NC_000002.12 | Chr2 | 30,342 | 14,866,951 |
| nssv15161739 | Submitted genomic | NC_000002.11:g.(?_ 30342)_(15007075_? )dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 30,342 | 15,007,075 |
| nssv15161739 | Submitted genomic | NC_000002.10:g.(?_ 20342)_(14924526_? )dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 20,342 | 14,924,526 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161739 | GRCh37: NC_000002.11:g.(?_30342)_(15007075_?)dup, GRCh38: NC_000002.12:g.(?_30342)_(14866951_?)dup, NCBI36: NC_000002.10:g.(?_20342)_(14924526_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000052931.8, VCV000059131.1 | 3 |