nsv3922783
- 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:14,486,867
- Description:GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)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: 34545 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 34540 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 8337 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 |
|---|---|---|---|---|---|---|---|
| nsv3922783 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 152,761,187 | 167,248,053 |
| nsv3922783 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 152,140,747 | 166,675,058 |
| nsv3922783 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 152,120,940 | 166,607,636 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132181 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052144.5, VCV000058390.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132181 | Submitted genomic | NC_000005.10:g.(?_ 152761187)_(167248 053_?)del | GRCh38 (hg38) | NC_000005.10 | Chr5 | 152,761,187 | 167,248,053 |
| nssv15132181 | Submitted genomic | NC_000005.9:g.(?_1 52140747)_(1666750 58_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 152,140,747 | 166,675,058 |
| nssv15132181 | Submitted genomic | NC_000005.8:g.(?_1 52120940)_(1666076 36_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 152,120,940 | 166,607,636 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132181 | GRCh37: NC_000005.9:g.(?_152140747)_(166675058_?)del, GRCh38: NC_000005.10:g.(?_152761187)_(167248053_?)del, NCBI36: NC_000005.8:g.(?_152120940)_(166607636_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000052144.5, VCV000058390.2 | 1 |