nsv3922631
- 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:20,845,897
- Description:GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3 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: 49356 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 49352 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 12147 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922631 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 61,691,800 | 82,537,696 |
| nsv3922631 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 62,604,359 | 83,449,931 |
| nsv3922631 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 62,766,913 | 83,612,486 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161511 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053654.6, VCV000059788.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161511 | Submitted genomic | NC_000008.11:g.(?_ 61691800)_(8253769 6_?)dup | GRCh38 (hg38) | NC_000008.11 | Chr8 | 61,691,800 | 82,537,696 |
| nssv15161511 | Submitted genomic | NC_000008.10:g.(?_ 62604359)_(8344993 1_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 62,604,359 | 83,449,931 |
| nssv15161511 | Submitted genomic | NC_000008.9:g.(?_6 2766913)_(83612486 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 62,766,913 | 83,612,486 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161511 | GRCh37: NC_000008.10:g.(?_62604359)_(83449931_?)dup, GRCh38: NC_000008.11:g.(?_61691800)_(82537696_?)dup, NCBI36: NC_000008.9:g.(?_62766913)_(83612486_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000053654.6, VCV000059788.1 | 3 |