nsv3924309
- 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:6,941,173
- Description:GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)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: 17198 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 17190 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 4012 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 |
|---|---|---|---|---|---|---|---|
| nsv3924309 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 138,871,137 | 145,812,309 |
| nsv3924309 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 138,206,826 | 145,191,872 |
| nsv3924309 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 138,234,725 | 145,172,065 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133553 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052142.4, VCV000058388.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133553 | Submitted genomic | NC_000005.10:g.(?_ 138871137)_(145812 309_?)del | GRCh38 (hg38) | NC_000005.10 | Chr5 | 138,871,137 | 145,812,309 |
| nssv15133553 | Submitted genomic | NC_000005.9:g.(?_1 38206826)_(1451918 72_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 138,206,826 | 145,191,872 |
| nssv15133553 | Submitted genomic | NC_000005.8:g.(?_1 38234725)_(1451720 65_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 138,234,725 | 145,172,065 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133553 | GRCh37: NC_000005.9:g.(?_138206826)_(145191872_?)del, GRCh38: NC_000005.10:g.(?_138871137)_(145812309_?)del, NCBI36: NC_000005.8:g.(?_138234725)_(145172065_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000052142.4, VCV000058388.1 | 1 |