nsv3911442
- 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:2,402,540
- Description:GRCh38/hg38 8q24.3(chr8:141738068-144140607)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: 11604 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 11434 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 2987 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 |
|---|---|---|---|---|---|---|---|
| nsv3911442 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 141,738,068 | 144,140,607 |
| nsv3911442 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 142,764,538 | 145,195,510 |
| nsv3911442 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 142,823,655 | 145,267,498 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161348 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000140913.4, VCV000152355.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161348 | Submitted genomic | NC_000008.11:g.(?_ 141738068)_(144140 607_?)del | GRCh38 (hg38) | NC_000008.11 | Chr8 | 141,738,068 | 144,140,607 |
| nssv15161348 | Submitted genomic | NC_000008.10:g.(?_ 142764538)_(145195 510_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 142,764,538 | 145,195,510 |
| nssv15161348 | Submitted genomic | NC_000008.9:g.(?_1 42823655)_(1452674 98_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 142,823,655 | 145,267,498 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161348 | GRCh37: NC_000008.10:g.(?_142764538)_(145195510_?)del, GRCh38: NC_000008.11:g.(?_141738068)_(144140607_?)del, NCBI36: NC_000008.9:g.(?_142823655)_(145267498_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000140913.4, VCV000152355.1 | 1 |