A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700080



Internal ID15090046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:226975275..226986509hg38UCSC Ensembl
Innerchr1:227162976..227174210hg19UCSC Ensembl
Innerchr1:225229599..225240833hg18UCSC Ensembl
Innerchr1:223469711..223480945hg17UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3811235
hg1911235
hg1811235
hg1711235
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520923
Supporting Variants
Samples
Known GenesADCK3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700080
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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