A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520176



Internal ID15447469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:87412105..87607718hg38UCSC Ensembl
InnerchrX:86667108..86862721hg19UCSC Ensembl
InnerchrX:86553764..86749377hg18UCSC Ensembl
InnerchrX:86473253..86668866hg17UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg38195614
hg19195614
hg18195614
hg17195614
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698113, nssv661376, nssv694379, nssv687425, nssv699612, nssv671251, nssv688968
Samples
Known GenesKLHL4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520176
Frequency
Sample Size2026
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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