nsv3922848
- 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:11,732,082
- Description:GRCh38/hg38 8q21.11-21.2(chr8:73879385-85611466)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: 28602 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 28615 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 6852 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922848 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 73,879,385 | 85,611,466 |
| nsv3922848 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 74,791,620 | 86,523,695 |
| nsv3922848 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 74,954,174 | 86,710,947 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147909 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000054259.5, VCV000060377.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147909 | Submitted genomic | NC_000008.11:g.(?_ 73879385)_(8561146 6_?)del | GRCh38 (hg38) | NC_000008.11 | Chr8 | 73,879,385 | 85,611,466 |
| nssv15147909 | Submitted genomic | NC_000008.10:g.(?_ 74791620)_(8652369 5_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 74,791,620 | 86,523,695 |
| nssv15147909 | Submitted genomic | NC_000008.9:g.(?_7 4954174)_(86710947 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 74,954,174 | 86,710,947 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147909 | GRCh37: NC_000008.10:g.(?_74791620)_(86523695_?)del, GRCh38: NC_000008.11:g.(?_73879385)_(85611466_?)del, NCBI36: NC_000008.9:g.(?_74954174)_(86710947_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000054259.5, VCV000060377.1 | 1 |