nsv3902718
- 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:10,604,431
- Description:GRCh38/hg38 2q22.3-24.1(chr2:147251948-157856378)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: 23723 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 23729 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 6462 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 |
|---|---|---|---|---|---|---|---|
| nsv3902718 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 147,251,948 | 157,856,378 |
| nsv3902718 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 148,009,516 | 158,712,890 |
| nsv3902718 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 147,725,986 | 158,421,136 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146585 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000054090.6, VCV000060216.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146585 | Submitted genomic | NC_000002.12:g.(?_ 147251948)_(157856 378_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 147,251,948 | 157,856,378 |
| nssv15146585 | Submitted genomic | NC_000002.11:g.(?_ 148009516)_(158712 890_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 148,009,516 | 158,712,890 |
| nssv15146585 | Submitted genomic | NC_000002.10:g.(?_ 147725986)_(158421 136_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 147,725,986 | 158,421,136 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146585 | GRCh37: NC_000002.11:g.(?_148009516)_(158712890_?)del, GRCh38: NC_000002.12:g.(?_147251948)_(157856378_?)del, NCBI36: NC_000002.10:g.(?_147725986)_(158421136_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000054090.6, VCV000060216.1 | 1 |