nsv3916675
- 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:14,929,295
- Description:GRCh38/hg38 18p11.32-11.21(chr18:48782-14978076)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: 46622 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 46627 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 12336 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3916675 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000018.10 | Chr18 | 48,782 | 14,978,076 |
| nsv3916675 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 48,782 | 14,978,075 |
| nsv3916675 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 38,782 | 14,968,075 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148923 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000141627.6, VCV000153128.3 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148923 | Submitted genomic | NC_000018.10:g.(?_ 48782)_(14978076_? )del | GRCh38 (hg38) | NC_000018.10 | Chr18 | 48,782 | 14,978,076 |
| nssv15148923 | Submitted genomic | NC_000018.9:g.(?_4 8782)_(14978075_?) del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 48,782 | 14,978,075 |
| nssv15148923 | Submitted genomic | NC_000018.8:g.(?_3 8782)_(14968075_?) del | NCBI36 (hg18) | NC_000018.8 | Chr18 | 38,782 | 14,968,075 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148923 | GRCh37: NC_000018.9:g.(?_48782)_(14978075_?)del, GRCh38: NC_000018.10:g.(?_48782)_(14978076_?)del, NCBI36: NC_000018.8:g.(?_38782)_(14968075_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000141627.6, VCV000153128.3 | 1 |