nsv3922931
- 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:23,986,435
- Description:GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)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: 70478 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 70491 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 18726 SVs from 38 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|
nsv3922931 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 12,383,584 | 36,370,018 |
nsv3922931 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 12,241,093 | 36,227,536 |
nsv3922931 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 12,285,464 | 36,347,088 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15146343 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051145.5, VCV000057442.1 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|
nssv15146343 | Submitted genomic | NC_000008.11:g.(?_ 12383584)_(3637001 8_?)dup | GRCh38 (hg38) | NC_000008.11 | Chr8 | 12,383,584 | 36,370,018 |
nssv15146343 | Submitted genomic | NC_000008.10:g.(?_ 12241093)_(3622753 6_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 12,241,093 | 36,227,536 |
nssv15146343 | Submitted genomic | NC_000008.9:g.(?_1 2285464)_(36347088 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 12,285,464 | 36,347,088 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15146343 | GRCh37: NC_000008.10:g.(?_12241093)_(36227536_?)dup, GRCh38: NC_000008.11:g.(?_12383584)_(36370018_?)dup, NCBI36: NC_000008.9:g.(?_12285464)_(36347088_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000051145.5, VCV000057442.1 | 3 |