A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520478



Internal ID15447771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:18833965..18834777hg38UCSC Ensembl
InnerchrX:18852083..18852895hg19UCSC Ensembl
InnerchrX:18762004..18762816hg18UCSC Ensembl
InnerchrX:18611740..18612552hg17UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg38813
hg19813
hg18813
hg17813
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv671737, nssv692884
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520478
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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