nsv4673972
- 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:843,272
- Description:GRCh37/hg19 1q21.3(chr1:153061323-153904594)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: 2476 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 2485 SVs from 85 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4673972 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 153,088,847 | 153,932,118 |
| nsv4673972 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 153,061,323 | 153,904,594 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16206516 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001005141.1, VCV000814129.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16206516 | Remapped | Perfect | NC_000001.11:g.(?_ 153088847)_(153932 118_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 153,088,847 | 153,932,118 |
| nssv16206516 | Submitted genomic | NC_000001.10:g.(?_ 153061323)_(153904 594_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 153,061,323 | 153,904,594 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16206516 | GRCh37: NC_000001.10:g.(?_153061323)_(153904594_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001005141.1, VCV000814129.1 | 3 |