A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523196



Internal ID15450489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:113947067..113947351hg38UCSC Ensembl
Innerchr1:114489689..114489973hg19UCSC Ensembl
Innerchr1:114291212..114291496hg18UCSC Ensembl
Innerchr1:114201731..114202015hg17UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38285
hg19285
hg18285
hg17285
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698912
Samples
Known GenesHIPK1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523196
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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