nsv4455901
- 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:143,765
- Description:GRCh37/hg19 10p12.1(chr10:25133682-25277446)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: 362 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 362 SVs from 38 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4455901 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 24,844,753 | 24,988,517 |
| nsv4455901 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 25,133,682 | 25,277,446 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15774515 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000846016.2, VCV000685308.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15774515 | Remapped | Perfect | NC_000010.11:g.(?_ 24844753)_(2498851 7_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 24,844,753 | 24,988,517 |
| nssv15774515 | Submitted genomic | NC_000010.10:g.(?_ 25133682)_(2527744 6_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 25,133,682 | 25,277,446 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15774515 | GRCh37: NC_000010.10:g.(?_25133682)_(25277446_?)del | copy number loss | unknown | not provided | Uncertain significance | ClinVar | RCV000846016.2, VCV000685308.2 | 1 |