nsv6636480
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:425,693
- Description:GRCh37/hg19 5p14.3(chr5:22130874-22556566)x1 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1188 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 1188 SVs from 71 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6636480 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 22,130,765 | 22,556,457 |
| nsv6636480 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 22,130,874 | 22,556,566 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330727 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002472588.1, VCV001807782.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330727 | Remapped | Perfect | NC_000005.10:g.(?_ 22130765)_(2255645 7_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 22,130,765 | 22,556,457 |
| nssv18330727 | Submitted genomic | NC_000005.9:g.(?_2 2130874)_(22556566 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 22,130,874 | 22,556,566 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330727 | GRCh37: NC_000005.9:g.(?_22130874)_(22556566_?)del | copy number loss | unknown | not provided | Uncertain significance | ClinVar | RCV002472588.1, VCV001807782.1 | 1 |