nsv3919101
- 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:3,413,341
- Description:GRCh38/hg38 8q12.1(chr8:55423413-58836753)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: 8389 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 8389 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 1972 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3919101 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 55,423,413 | 58,836,753 |
| nsv3919101 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 56,335,973 | 59,749,312 |
| nsv3919101 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 56,498,527 | 59,911,866 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15121489 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000054240.6, VCV000060362.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15121489 | Submitted genomic | NC_000008.11:g.(?_ 55423413)_(5883675 3_?)del | GRCh38 (hg38) | NC_000008.11 | Chr8 | 55,423,413 | 58,836,753 |
| nssv15121489 | Submitted genomic | NC_000008.10:g.(?_ 56335973)_(5974931 2_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 56,335,973 | 59,749,312 |
| nssv15121489 | Submitted genomic | NC_000008.9:g.(?_5 6498527)_(59911866 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 56,498,527 | 59,911,866 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15121489 | GRCh37: NC_000008.10:g.(?_56335973)_(59749312_?)del, GRCh38: NC_000008.11:g.(?_55423413)_(58836753_?)del, NCBI36: NC_000008.9:g.(?_56498527)_(59911866_?)del | copy number loss | paternal | See cases | Pathogenic | ClinVar | RCV000054240.6, VCV000060362.1 | 1 |