nsv3924661
- 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:12,913,095
- Description:GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)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: 28632 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 28635 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 7154 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 |
|---|---|---|---|---|---|---|---|
| nsv3924661 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 115,601,230 | 128,514,324 |
| nsv3924661 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 115,922,394 | 128,835,469 |
| nsv3924661 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 116,029,087 | 128,877,162 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147044 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052196.6, VCV000058442.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147044 | Submitted genomic | NC_000006.12:g.(?_ 115601230)_(128514 324_?)del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 115,601,230 | 128,514,324 |
| nssv15147044 | Submitted genomic | NC_000006.11:g.(?_ 115922394)_(128835 469_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 115,922,394 | 128,835,469 |
| nssv15147044 | Submitted genomic | NC_000006.10:g.(?_ 116029087)_(128877 162_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 116,029,087 | 128,877,162 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147044 | GRCh37: NC_000006.11:g.(?_115922394)_(128835469_?)del, GRCh38: NC_000006.12:g.(?_115601230)_(128514324_?)del, NCBI36: NC_000006.10:g.(?_116029087)_(128877162_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000052196.6, VCV000058442.1 | 1 |