A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518704



Internal ID15099311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:8469952..8714909hg38UCSC Ensembl
InnerchrX:8437993..8682950hg19UCSC Ensembl
InnerchrX:8397993..8642950hg18UCSC Ensembl
InnerchrX:8247729..8492686hg17UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg38244958
hg19244958
hg18244958
hg17244958
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696155
Samples
Known GenesKAL1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518704
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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