A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521382



Internal ID15448675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:155799145..155799588hg38UCSC Ensembl
Innerchr4:156720297..156720740hg19UCSC Ensembl
Innerchr4:156939747..156940190hg18UCSC Ensembl
Innerchr4:157077902..157078345hg17UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg38444
hg19444
hg18444
hg17444
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697991
Samples
Known GenesGUCY1B3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521382
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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