nsv3913131
- 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:55,480
- Description:GRCh38/hg38 16p13.11(chr16:15892203-15947682)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: 710 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 710 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 259 SVs from 24 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|
nsv3913131 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 15,892,203 | 15,947,682 |
nsv3913131 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 15,986,060 | 16,041,539 |
nsv3913131 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 15,893,561 | 15,949,040 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15120830 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000134458.3, VCV000145056.1 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|
nssv15120830 | Submitted genomic | NC_000016.10:g.(?_ 15892203)_(1594768 2_?)dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 15,892,203 | 15,947,682 |
nssv15120830 | Submitted genomic | NC_000016.9:g.(?_1 5986060)_(16041539 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 15,986,060 | 16,041,539 |
nssv15120830 | Submitted genomic | NC_000016.8:g.(?_1 5893561)_(15949040 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 15,893,561 | 15,949,040 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15120830 | GRCh37: NC_000016.9:g.(?_15986060)_(16041539_?)dup, GRCh38: NC_000016.10:g.(?_15892203)_(15947682_?)dup, NCBI36: NC_000016.8:g.(?_15893561)_(15949040_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000134458.3, VCV000145056.1 | 3 |