nsv3923916
- 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:4,345,121
- Description:GRCh38/hg38 11q23.3-24.2(chr11:120426093-124771213)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: 10067 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 10068 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 2645 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923916 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 120,426,093 | 124,771,213 |
| nsv3923916 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 120,296,802 | 124,641,109 |
| nsv3923916 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 119,802,012 | 124,146,319 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15120805 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000134405.3, VCV000145002.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15120805 | Submitted genomic | NC_000011.10:g.(?_ 120426093)_(124771 213_?)del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 120,426,093 | 124,771,213 |
| nssv15120805 | Submitted genomic | NC_000011.9:g.(?_1 20296802)_(1246411 09_?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 120,296,802 | 124,641,109 |
| nssv15120805 | Submitted genomic | NC_000011.8:g.(?_1 19802012)_(1241463 19_?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 119,802,012 | 124,146,319 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15120805 | GRCh37: NC_000011.9:g.(?_120296802)_(124641109_?)del, GRCh38: NC_000011.10:g.(?_120426093)_(124771213_?)del, NCBI36: NC_000011.8:g.(?_119802012)_(124146319_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000134405.3, VCV000145002.1 | 1 |