nsv4729000
- 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:598,855
- Description:GRCh37/hg19 10q24.32-24.33(chr10:104883845-105482700)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: 1697 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 1698 SVs from 79 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729000 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 103,124,088 | 103,722,942 |
| nsv4729000 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 104,883,845 | 105,482,700 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254813 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001258465.1, VCV000979289.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254813 | Remapped | Perfect | NC_000010.11:g.(?_ 103124088)_(103722 942_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 103,124,088 | 103,722,942 |
| nssv16254813 | Submitted genomic | NC_000010.10:g.(?_ 104883845)_(105482 700_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 104,883,845 | 105,482,700 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16254813 | GRCh37: NC_000010.10:g.(?_104883845)_(105482700_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001258465.1, VCV000979289.1 | 3 |