nsv4455628
- 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:164,326
- Description:GRCh37/hg19 10p13(chr10:13551991-13716316)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: 483 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 483 SVs from 53 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4455628 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 13,509,991 | 13,674,316 |
nsv4455628 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 13,551,991 | 13,716,316 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15773559 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000849866.2, VCV000689175.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15773559 | Remapped | Perfect | NC_000010.11:g.(?_ 13509991)_(1367431 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 13,509,991 | 13,674,316 |
nssv15773559 | Submitted genomic | NC_000010.10:g.(?_ 13551991)_(1371631 6_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 13,551,991 | 13,716,316 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15773559 | GRCh37: NC_000010.10:g.(?_13551991)_(13716316_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000849866.2, VCV000689175.2 | 3 |