A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694938



Internal ID15084904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:53506376..53539387hg38UCSC Ensembl
Innerchr1:53972049..54005060hg19UCSC Ensembl
Innerchr1:53744637..53777648hg18UCSC Ensembl
Innerchr1:53684070..53717081hg17UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3833012
hg1933012
hg1833012
hg1733012
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522165
Supporting Variants
Samples
Known GenesGLIS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694938
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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