nsv4684184
- 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:401,960
- Description:GRCh37/hg19 1p36.11(chr1:25872197-26274156)x3 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: 1094 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 1095 SVs from 69 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4684184 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 25,545,706 | 25,947,665 |
| nsv4684184 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 25,872,197 | 26,274,156 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16215254 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV001194548.1, VCV000929348.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16215254 | Remapped | Perfect | NC_000001.11:g.(?_ 25545706)_(2594766 5_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 25,545,706 | 25,947,665 |
| nssv16215254 | Submitted genomic | NC_000001.10:g.(?_ 25872197)_(2627415 6_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 25,872,197 | 26,274,156 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16215254 | GRCh37: NC_000001.10:g.(?_25872197)_(26274156_?)dup | copy number gain | unknown | See cases | Uncertain significance | ClinVar | RCV001194548.1, VCV000929348.1 | 3 |