nsv3894347
- 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:16,840
- Description:GRCh37/hg19 16q24.1(chr16:86519903-86536742)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: 125 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 125 SVs from 39 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3894347 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 86,486,297 | 86,503,136 |
nsv3894347 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 86,519,903 | 86,536,742 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15141362 | copy number gain | Multiple | Multiple | See cases | Benign/Likely benign | ClinVar | RCV000449113.3, VCV000393935.3 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15141362 | Remapped | Perfect | NC_000016.10:g.(?_ 86486297)_(8650313 6_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 86,486,297 | 86,503,136 |
nssv15141362 | Submitted genomic | NC_000016.9:g.(?_8 6519903)_(86536742 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 86,519,903 | 86,536,742 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15141362 | GRCh37: NC_000016.9:g.(?_86519903)_(86536742_?)dup | copy number gain | not provided | See cases | Benign/Likely benign | ClinVar | RCV000449113.3, VCV000393935.3 | 3 |