nsv3922470
- 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:7,956,402
- Description:GRCh38/hg38 8q22.3-23.1(chr8:101171263-109127664)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: 20050 SVs from 116 studies. See in: genome view
Overlapping variant regions from other studies: 20052 SVs from 116 studies. See in: genome view
Overlapping variant regions from other studies: 5098 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922470 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 101,171,263 | 109,127,664 |
| nsv3922470 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 102,183,491 | 110,139,893 |
| nsv3922470 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 102,252,667 | 110,209,069 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15135780 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000138134.5, VCV000149076.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15135780 | Submitted genomic | NC_000008.11:g.(?_ 101171263)_(109127 664_?)del | GRCh38 (hg38) | NC_000008.11 | Chr8 | 101,171,263 | 109,127,664 |
| nssv15135780 | Submitted genomic | NC_000008.10:g.(?_ 102183491)_(110139 893_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 102,183,491 | 110,139,893 |
| nssv15135780 | Submitted genomic | NC_000008.9:g.(?_1 02252667)_(1102090 69_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 102,252,667 | 110,209,069 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15135780 | GRCh37: NC_000008.10:g.(?_102183491)_(110139893_?)del, GRCh38: NC_000008.11:g.(?_101171263)_(109127664_?)del, NCBI36: NC_000008.9:g.(?_102252667)_(110209069_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000138134.5, VCV000149076.2 | 1 |