nsv3923429
- 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:12,861,416
- Description:GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)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: 31739 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 31741 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 8608 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923429 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 50,288,355 | 63,149,770 |
| nsv3923429 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 49,584,189 | 62,445,597 |
| nsv3923429 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 49,619,946 | 62,481,353 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132287 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000050797.4, VCV000057149.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132287 | Submitted genomic | NC_000005.10:g.(?_ 50288355)_(6314977 0_?)del | GRCh38 (hg38) | NC_000005.10 | Chr5 | 50,288,355 | 63,149,770 |
| nssv15132287 | Submitted genomic | NC_000005.9:g.(?_4 9584189)_(62445597 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 49,584,189 | 62,445,597 |
| nssv15132287 | Submitted genomic | NC_000005.8:g.(?_4 9619946)_(62481353 _?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 49,619,946 | 62,481,353 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132287 | GRCh37: NC_000005.9:g.(?_49584189)_(62445597_?)del, GRCh38: NC_000005.10:g.(?_50288355)_(63149770_?)del, NCBI36: NC_000005.8:g.(?_49619946)_(62481353_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000050797.4, VCV000057149.1 | 1 |