nsv3918718
- 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:7,644,269
- Description:GRCh38/hg38 3q27.3-29(chr3:186765148-194409416)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: 20945 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 20923 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 6085 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3918718 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 186,765,148 | 194,409,416 |
| nsv3918718 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 186,482,937 | 194,130,145 |
| nsv3918718 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 187,965,631 | 195,611,434 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147389 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000137962.4, VCV000148900.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147389 | Submitted genomic | NC_000003.12:g.(?_ 186765148)_(194409 416_?)del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 186,765,148 | 194,409,416 |
| nssv15147389 | Submitted genomic | NC_000003.11:g.(?_ 186482937)_(194130 145_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 186,482,937 | 194,130,145 |
| nssv15147389 | Submitted genomic | NC_000003.10:g.(?_ 187965631)_(195611 434_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 187,965,631 | 195,611,434 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147389 | GRCh37: NC_000003.11:g.(?_186482937)_(194130145_?)del, GRCh38: NC_000003.12:g.(?_186765148)_(194409416_?)del, NCBI36: NC_000003.10:g.(?_187965631)_(195611434_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000137962.4, VCV000148900.2 | 1 |