nsv4456186
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:239,398
- Description:GRCh37/hg19 16p13.3(chr16:2817166-3056563)x3 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1029 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 1029 SVs from 79 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4456186 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 2,767,165 | 3,006,562 |
nsv4456186 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 2,817,166 | 3,056,563 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15774696 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000846256.2, VCV000685548.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15774696 | Remapped | Perfect | NC_000016.10:g.(?_ 2767165)_(3006562_ ?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 2,767,165 | 3,006,562 |
nssv15774696 | Submitted genomic | NC_000016.9:g.(?_2 817166)_(3056563_? )dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 2,817,166 | 3,056,563 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15774696 | GRCh37: NC_000016.9:g.(?_2817166)_(3056563_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000846256.2, VCV000685548.2 | 3 |