nsv3906622
- 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:2,298,433
- Description:GRCh38/hg38 2q33.2-33.3(chr2:202631428-204929860)x1 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: 5167 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 5167 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 1254 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3906622 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 202,631,428 | 204,929,860 |
| nsv3906622 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 203,496,151 | 205,794,583 |
| nsv3906622 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 203,204,396 | 205,502,828 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134858 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000136892.4, VCV000147740.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134858 | Submitted genomic | NC_000002.12:g.(?_ 202631428)_(204929 860_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 202,631,428 | 204,929,860 |
| nssv15134858 | Submitted genomic | NC_000002.11:g.(?_ 203496151)_(205794 583_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 203,496,151 | 205,794,583 |
| nssv15134858 | Submitted genomic | NC_000002.10:g.(?_ 203204396)_(205502 828_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 203,204,396 | 205,502,828 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134858 | GRCh37: NC_000002.11:g.(?_203496151)_(205794583_?)del, GRCh38: NC_000002.12:g.(?_202631428)_(204929860_?)del, NCBI36: NC_000002.10:g.(?_203204396)_(205502828_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000136892.4, VCV000147740.2 | 1 |