nsv4674332
- 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:73,432
- Description:GRCh37/hg19 2p22.3(chr2:36521758-36589156)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: 308 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 131 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 308 SVs from 59 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4674332 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 36,294,615 | 36,362,013 |
| nsv4674332 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315908.1 | Chr2|NW_00 3315908.1 | 1,303 | 74,734 |
| nsv4674332 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 36,521,758 | 36,589,156 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207794 | copy number loss | Multiple | Multiple | not provided | Likely benign | ClinVar | RCV001005245.1, VCV000814233.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207794 | Remapped | Pass | NW_003315908.1:g.( ?_1303)_(74734_?)d el | GRCh38.p12 | Second Pass | NW_003315908.1 | Chr2|NW_00 3315908.1 | 1,303 | 74,734 |
| nssv16207794 | Remapped | Perfect | NC_000002.12:g.(?_ 36294615)_(3636201 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 36,294,615 | 36,362,013 |
| nssv16207794 | Submitted genomic | NC_000002.11:g.(?_ 36521758)_(3658915 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 36,521,758 | 36,589,156 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207794 | GRCh37: NC_000002.11:g.(?_36521758)_(36589156_?)del | copy number loss | germline | not provided | Likely benign | ClinVar | RCV001005245.1, VCV000814233.1 | 1 |