nsv3896612
- 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:22,766,227
- Description:GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)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: 56268 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 56272 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 14864 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3896612 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 192,938,826 | 215,705,052 |
| nsv3896612 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 193,803,552 | 216,569,775 |
| nsv3896612 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 193,511,797 | 216,278,020 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145974 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000141254.5, VCV000152738.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15145974 | Submitted genomic | NC_000002.12:g.(?_ 192938826)_(215705 052_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 192,938,826 | 215,705,052 |
| nssv15145974 | Submitted genomic | NC_000002.11:g.(?_ 193803552)_(216569 775_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 193,803,552 | 216,569,775 |
| nssv15145974 | Submitted genomic | NC_000002.10:g.(?_ 193511797)_(216278 020_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 193,511,797 | 216,278,020 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15145974 | GRCh37: NC_000002.11:g.(?_193803552)_(216569775_?)del, GRCh38: NC_000002.12:g.(?_192938826)_(215705052_?)del, NCBI36: NC_000002.10:g.(?_193511797)_(216278020_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000141254.5, VCV000152738.2 | 1 |