nsv3914752
- 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:5,472,476
- Description:GRCh38/hg38 16q11.2-12.1(chr16:46466829-51939304)x1 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: 11292 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 11293 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 2860 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3914752 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 46,466,829 | 51,939,304 |
| nsv3914752 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 46,500,741 | 51,973,216 |
| nsv3914752 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 45,058,242 | 50,530,717 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134392 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053309.5, VCV000059467.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134392 | Submitted genomic | NC_000016.10:g.(?_ 46466829)_(5193930 4_?)del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 46,466,829 | 51,939,304 |
| nssv15134392 | Submitted genomic | NC_000016.9:g.(?_4 6500741)_(51973216 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 46,500,741 | 51,973,216 |
| nssv15134392 | Submitted genomic | NC_000016.8:g.(?_4 5058242)_(50530717 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 45,058,242 | 50,530,717 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134392 | GRCh37: NC_000016.9:g.(?_46500741)_(51973216_?)del, GRCh38: NC_000016.10:g.(?_46466829)_(51939304_?)del, NCBI36: NC_000016.8:g.(?_45058242)_(50530717_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000053309.5, VCV000059467.1 | 1 |