nsv4455202
- 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:383,124
- Description:GRCh37/hg19 10q25.3(chr10:116139681-116522804)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: 820 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 820 SVs from 56 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4455202 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 114,379,922 | 114,763,045 |
nsv4455202 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 116,139,681 | 116,522,804 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15776116 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000848644.2, VCV000687953.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15776116 | Remapped | Perfect | NC_000010.11:g.(?_ 114379922)_(114763 045_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 114,379,922 | 114,763,045 |
nssv15776116 | Submitted genomic | NC_000010.10:g.(?_ 116139681)_(116522 804_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 116,139,681 | 116,522,804 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15776116 | GRCh37: NC_000010.10:g.(?_116139681)_(116522804_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000848644.2, VCV000687953.2 | 3 |