nsv4675066
- 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:822,299
- Description:GRCh37/hg19 16p13.3(chr16:364182-1186480)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: 6872 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 6872 SVs from 103 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675066 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 314,182 | 1,136,480 |
| nsv4675066 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 364,182 | 1,186,480 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207249 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001006744.1, VCV000815769.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207249 | Remapped | Perfect | NC_000016.10:g.(?_ 314182)_(1136480_? )dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 314,182 | 1,136,480 |
| nssv16207249 | Submitted genomic | NC_000016.9:g.(?_3 64182)_(1186480_?) dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 364,182 | 1,186,480 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207249 | GRCh37: NC_000016.9:g.(?_364182)_(1186480_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001006744.1, VCV000815769.1 | 3 |