A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527806



Internal ID15108413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:53499393..53510515hg38UCSC Ensembl
Innerchr1:53965066..53976188hg19UCSC Ensembl
Innerchr1:53737654..53748776hg18UCSC Ensembl
Innerchr1:53677087..53688209hg17UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3811123
hg1911123
hg1811123
hg1711123
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704300
Samples
Known GenesGLIS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527806
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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