nsv3871585
- 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:3,598
- Description:GRCh37/hg19 1q42.2(chr1:234315938-234319535)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: 142 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 46 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 143 SVs from 52 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3871585 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 234,180,192 | 234,183,789 |
| nsv3871585 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187521.1 | Chr1|NT_18 7521.1 | 16,736 | 20,333 |
| nsv3871585 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 234,315,938 | 234,319,535 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15156995 | copy number loss | Multiple | Multiple | not provided | Benign | ClinVar | RCV000736898.2, VCV000600262.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15156995 | Remapped | Perfect | NT_187521.1:g.(?_1 6736)_(20333_?)del | GRCh38.p12 | Second Pass | NT_187521.1 | Chr1|NT_18 7521.1 | 16,736 | 20,333 |
| nssv15156995 | Remapped | Perfect | NC_000001.11:g.(?_ 234180192)_(234183 789_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 234,180,192 | 234,183,789 |
| nssv15156995 | Submitted genomic | NC_000001.10:g.(?_ 234315938)_(234319 535_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 234,315,938 | 234,319,535 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15156995 | GRCh37: NC_000001.10:g.(?_234315938)_(234319535_?)del | copy number loss | unknown | not provided | Benign | ClinVar | RCV000736898.2, VCV000600262.2 | 1 |