nsv3914248
- 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:8,191,709
- Description:GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)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: 23049 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 23049 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 5400 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3914248 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 23,752,047 | 31,943,755 |
| nsv3914248 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 23,763,368 | 31,955,076 |
| nsv3914248 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 23,670,869 | 31,862,577 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137443 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000141141.5, VCV000152605.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137443 | Submitted genomic | NC_000016.10:g.(?_ 23752047)_(3194375 5_?)dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 23,752,047 | 31,943,755 |
| nssv15137443 | Submitted genomic | NC_000016.9:g.(?_2 3763368)_(31955076 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 23,763,368 | 31,955,076 |
| nssv15137443 | Submitted genomic | NC_000016.8:g.(?_2 3670869)_(31862577 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 23,670,869 | 31,862,577 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137443 | GRCh37: NC_000016.9:g.(?_23763368)_(31955076_?)dup, GRCh38: NC_000016.10:g.(?_23752047)_(31943755_?)dup, NCBI36: NC_000016.8:g.(?_23670869)_(31862577_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000141141.5, VCV000152605.1 | 3 |