nsv3923174
- 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:14,646,269
- Description:GRCh38/hg38 8p22-12(chr8:18972996-33619264)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: 40082 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 40094 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 10338 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923174 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 18,972,996 | 33,619,264 |
| nsv3923174 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 18,830,506 | 33,476,782 |
| nsv3923174 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 18,874,786 | 33,596,324 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146037 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142747.5, VCV000154680.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146037 | Submitted genomic | NC_000008.11:g.(?_ 18972996)_(3361926 4_?)del | GRCh38 (hg38) | NC_000008.11 | Chr8 | 18,972,996 | 33,619,264 |
| nssv15146037 | Submitted genomic | NC_000008.10:g.(?_ 18830506)_(3347678 2_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 18,830,506 | 33,476,782 |
| nssv15146037 | Submitted genomic | NC_000008.9:g.(?_1 8874786)_(33596324 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 18,874,786 | 33,596,324 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146037 | GRCh37: NC_000008.10:g.(?_18830506)_(33476782_?)del, GRCh38: NC_000008.11:g.(?_18972996)_(33619264_?)del, NCBI36: NC_000008.9:g.(?_18874786)_(33596324_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000142747.5, VCV000154680.2 | 1 |