nsv3892461
- 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:4,575,412
- Description:GRCh38/hg38 2q23.3-24.1(chr2:153609714-158185125)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: 9962 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 9962 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 2553 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3892461 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 153,609,714 | 158,185,125 |
| nsv3892461 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 154,466,227 | 159,041,637 |
| nsv3892461 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 154,174,473 | 158,749,883 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139195 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142963.4, VCV000154896.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15139195 | Submitted genomic | NC_000002.12:g.(?_ 153609714)_(158185 125_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 153,609,714 | 158,185,125 |
| nssv15139195 | Submitted genomic | NC_000002.11:g.(?_ 154466227)_(159041 637_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 154,466,227 | 159,041,637 |
| nssv15139195 | Submitted genomic | NC_000002.10:g.(?_ 154174473)_(158749 883_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 154,174,473 | 158,749,883 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15139195 | GRCh37: NC_000002.11:g.(?_154466227)_(159041637_?)del, GRCh38: NC_000002.12:g.(?_153609714)_(158185125_?)del, NCBI36: NC_000002.10:g.(?_154174473)_(158749883_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000142963.4, VCV000154896.2 | 1 |