nsv3915072
- 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:5,593,542
- Description:GRCh38/hg38 5q14.3(chr5:86743723-92337264)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: 11678 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 11679 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 2873 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3915072 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 86,743,723 | 92,337,264 |
| nsv3915072 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 86,039,540 | 91,633,081 |
| nsv3915072 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 86,075,296 | 91,668,837 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15120741 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053477.5, VCV000059630.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15120741 | Submitted genomic | NC_000005.10:g.(?_ 86743723)_(9233726 4_?)del | GRCh38 (hg38) | NC_000005.10 | Chr5 | 86,743,723 | 92,337,264 |
| nssv15120741 | Submitted genomic | NC_000005.9:g.(?_8 6039540)_(91633081 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 86,039,540 | 91,633,081 |
| nssv15120741 | Submitted genomic | NC_000005.8:g.(?_8 6075296)_(91668837 _?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 86,075,296 | 91,668,837 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15120741 | GRCh37: NC_000005.9:g.(?_86039540)_(91633081_?)del, GRCh38: NC_000005.10:g.(?_86743723)_(92337264_?)del, NCBI36: NC_000005.8:g.(?_86075296)_(91668837_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000053477.5, VCV000059630.1 | 1 |