nsv3919419
- 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:8,846,652
- Description:GRCh38/hg38 8p12-11.21(chr8:34312250-43158901)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: 24260 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 24242 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 5895 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3919419 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 34,312,250 | 43,158,901 |
| nsv3919419 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 34,169,768 | 43,014,044 |
| nsv3919419 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 34,289,310 | 43,133,201 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132279 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000050745.5, VCV000057114.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132279 | Submitted genomic | NC_000008.11:g.(?_ 34312250)_(4315890 1_?)del | GRCh38 (hg38) | NC_000008.11 | Chr8 | 34,312,250 | 43,158,901 |
| nssv15132279 | Submitted genomic | NC_000008.10:g.(?_ 34169768)_(4301404 4_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 34,169,768 | 43,014,044 |
| nssv15132279 | Submitted genomic | NC_000008.9:g.(?_3 4289310)_(43133201 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 34,289,310 | 43,133,201 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132279 | GRCh37: NC_000008.10:g.(?_34169768)_(43014044_?)del, GRCh38: NC_000008.11:g.(?_34312250)_(43158901_?)del, NCBI36: NC_000008.9:g.(?_34289310)_(43133201_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000050745.5, VCV000057114.1 | 1 |