nsv3913241
- 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:6,345,260
- Description:GRCh38/hg38 8q22.2-23.1(chr8:100179408-106524667)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: 15850 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 15850 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 3946 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3913241 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 100,179,408 | 106,524,667 |
| nsv3913241 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 101,191,636 | 107,536,895 |
| nsv3913241 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 101,260,812 | 107,606,071 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137497 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000141697.5, VCV000153234.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137497 | Submitted genomic | NC_000008.11:g.(?_ 100179408)_(106524 667_?)del | GRCh38 (hg38) | NC_000008.11 | Chr8 | 100,179,408 | 106,524,667 |
| nssv15137497 | Submitted genomic | NC_000008.10:g.(?_ 101191636)_(107536 895_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 101,191,636 | 107,536,895 |
| nssv15137497 | Submitted genomic | NC_000008.9:g.(?_1 01260812)_(1076060 71_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 101,260,812 | 107,606,071 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137497 | GRCh37: NC_000008.10:g.(?_101191636)_(107536895_?)del, GRCh38: NC_000008.11:g.(?_100179408)_(106524667_?)del, NCBI36: NC_000008.9:g.(?_101260812)_(107606071_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000141697.5, VCV000153234.2 | 1 |