nsv4728602
- 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:456,119
- Description:GRCh37/hg19 1q21.3(chr1:153007105-153463223)x3 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: 1295 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 1304 SVs from 74 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728602 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 153,034,629 | 153,490,747 |
| nsv4728602 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 153,007,105 | 153,463,223 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254817 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001258470.1, VCV000979294.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254817 | Remapped | Perfect | NC_000001.11:g.(?_ 153034629)_(153490 747_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 153,034,629 | 153,490,747 |
| nssv16254817 | Submitted genomic | NC_000001.10:g.(?_ 153007105)_(153463 223_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 153,007,105 | 153,463,223 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16254817 | GRCh37: NC_000001.10:g.(?_153007105)_(153463223_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001258470.1, VCV000979294.1 | 3 |