nsv3919996
- 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:5,471,325
- Description:GRCh38/hg38 8q22.3-23.1(chr8:101884819-107356143)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: 13698 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 13698 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 3436 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3919996 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 101,884,819 | 107,356,143 |
| nsv3919996 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 102,897,047 | 108,368,371 |
| nsv3919996 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 102,966,223 | 108,437,547 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132698 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000134099.4, VCV000144641.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132698 | Submitted genomic | NC_000008.11:g.(?_ 101884819)_(107356 143_?)del | GRCh38 (hg38) | NC_000008.11 | Chr8 | 101,884,819 | 107,356,143 |
| nssv15132698 | Submitted genomic | NC_000008.10:g.(?_ 102897047)_(108368 371_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 102,897,047 | 108,368,371 |
| nssv15132698 | Submitted genomic | NC_000008.9:g.(?_1 02966223)_(1084375 47_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 102,966,223 | 108,437,547 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132698 | GRCh37: NC_000008.10:g.(?_102897047)_(108368371_?)del, GRCh38: NC_000008.11:g.(?_101884819)_(107356143_?)del, NCBI36: NC_000008.9:g.(?_102966223)_(108437547_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000134099.4, VCV000144641.2 | 1 |