nsv3918661
- 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:29,330,013
- Description:GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)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: 67995 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 67999 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 17803 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3918661 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 93,886,671 | 123,216,683 |
| nsv3918661 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 93,605,515 | 122,935,530 |
| nsv3918661 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 95,088,205 | 124,418,220 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146259 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051543.6, VCV000057803.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146259 | Submitted genomic | NC_000003.12:g.(?_ 93886671)_(1232166 83_?)del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 93,886,671 | 123,216,683 |
| nssv15146259 | Submitted genomic | NC_000003.11:g.(?_ 93605515)_(1229355 30_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 93,605,515 | 122,935,530 |
| nssv15146259 | Submitted genomic | NC_000003.10:g.(?_ 95088205)_(1244182 20_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 95,088,205 | 124,418,220 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146259 | GRCh37: NC_000003.11:g.(?_93605515)_(122935530_?)del, GRCh38: NC_000003.12:g.(?_93886671)_(123216683_?)del, NCBI36: NC_000003.10:g.(?_95088205)_(124418220_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000051543.6, VCV000057803.1 | 1 |