nsv3892279
- 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:13,769,064
- Description:GRCh38/hg38 2q14.1-14.3(chr2:115302067-129071130)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: 34504 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 34507 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 9225 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 |
|---|---|---|---|---|---|---|---|
| nsv3892279 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 115,302,067 | 129,071,130 |
| nsv3892279 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 116,059,643 | 129,828,703 |
| nsv3892279 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 115,776,113 | 129,545,173 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148169 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000141584.4, VCV000153085.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148169 | Submitted genomic | NC_000002.12:g.(?_ 115302067)_(129071 130_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 115,302,067 | 129,071,130 |
| nssv15148169 | Submitted genomic | NC_000002.11:g.(?_ 116059643)_(129828 703_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 116,059,643 | 129,828,703 |
| nssv15148169 | Submitted genomic | NC_000002.10:g.(?_ 115776113)_(129545 173_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 115,776,113 | 129,545,173 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148169 | GRCh37: NC_000002.11:g.(?_116059643)_(129828703_?)del, GRCh38: NC_000002.12:g.(?_115302067)_(129071130_?)del, NCBI36: NC_000002.10:g.(?_115776113)_(129545173_?)del | copy number loss | tested-inconclusive | See cases | Pathogenic | ClinVar | RCV000141584.4, VCV000153085.2 | 1 |