nsv3897079
- 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:13,257,451
- Description:GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)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: 35308 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 35943 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 10080 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 |
|---|---|---|---|---|---|---|---|
| nsv3897079 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 77,025,216 | 90,282,666 |
| nsv3897079 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 77,252,342 | 91,619,262 |
| nsv3897079 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 77,105,850 | 90,982,989 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148009 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000134786.6, VCV000145403.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148009 | Submitted genomic | NC_000002.12:g.(?_ 77025216)_(9028266 6_?)dup | GRCh38 (hg38) | NC_000002.12 | Chr2 | 77,025,216 | 90,282,666 |
| nssv15148009 | Submitted genomic | NC_000002.11:g.(?_ 77252342)_(9161926 2_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 77,252,342 | 91,619,262 |
| nssv15148009 | Submitted genomic | NC_000002.10:g.(?_ 77105850)_(9098298 9_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 77,105,850 | 90,982,989 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148009 | GRCh37: NC_000002.11:g.(?_77252342)_(91619262_?)dup, GRCh38: NC_000002.12:g.(?_77025216)_(90282666_?)dup, NCBI36: NC_000002.10:g.(?_77105850)_(90982989_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000134786.6, VCV000145403.2 | 3 |