nsv3894168
- 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:7,487,391
- Description:GRCh38/hg38 2q23.3-24.2(chr2:151932344-159419734)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: 17911 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 17911 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 5018 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3894168 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 151,932,344 | 159,419,734 |
| nsv3894168 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 152,788,858 | 160,276,245 |
| nsv3894168 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 152,497,104 | 159,984,491 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139039 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142664.4, VCV000154597.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15139039 | Submitted genomic | NC_000002.12:g.(?_ 151932344)_(159419 734_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 151,932,344 | 159,419,734 |
| nssv15139039 | Submitted genomic | NC_000002.11:g.(?_ 152788858)_(160276 245_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 152,788,858 | 160,276,245 |
| nssv15139039 | Submitted genomic | NC_000002.10:g.(?_ 152497104)_(159984 491_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 152,497,104 | 159,984,491 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15139039 | GRCh37: NC_000002.11:g.(?_152788858)_(160276245_?)del, GRCh38: NC_000002.12:g.(?_151932344)_(159419734_?)del, NCBI36: NC_000002.10:g.(?_152497104)_(159984491_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000142664.4, VCV000154597.2 | 1 |