nsv3892813
- 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:12,386
- Description:
GRCh38/hg38 3p26.3(chr3:228954-241339)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: 289 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 289 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 115 SVs from 14 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3892813 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 228,954 | 241,339 |
| nsv3892813 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 270,637 | 283,022 |
| nsv3892813 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 245,637 | 258,022 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133815 | copy number loss | Multiple | Multiple | See cases | conflicting data from submitters | ClinVar | RCV000136034.4, VCV000146795.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133815 | Submitted genomic | NC_000003.12:g.(?_ 228954)_(241339_?) del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 228,954 | 241,339 |
| nssv15133815 | Submitted genomic | NC_000003.11:g.(?_ 270637)_(283022_?) del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 270,637 | 283,022 |
| nssv15133815 | Submitted genomic | NC_000003.10:g.(?_ 245637)_(258022_?) del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 245,637 | 258,022 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133815 | GRCh37: NC_000003.11:g.(?_270637)_(283022_?)del, GRCh38: NC_000003.12:g.(?_228954)_(241339_?)del, NCBI36: NC_000003.10:g.(?_245637)_(258022_?)del | copy number loss | not provided | See cases | conflicting data from submitters | ClinVar | RCV000136034.4, VCV000146795.2 | 1 |