A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518936



Internal ID15099543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179878267..179889198hg38UCSC Ensembl
Innerchr1:179847402..179858333hg19UCSC Ensembl
Innerchr1:178114025..178124956hg18UCSC Ensembl
Innerchr1:176579059..176589990hg17UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3810932
hg1910932
hg1810932
hg1710932
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696401
Samples
Known GenesTOR1AIP1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518936
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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