A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525583



Internal ID15452876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:87313441..87317998hg38UCSC Ensembl
Innerchr4:88234593..88239150hg19UCSC Ensembl
Innerchr4:88453617..88458174hg18UCSC Ensembl
Innerchr4:88591772..88596329hg17UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg384558
hg194558
hg184558
hg174558
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv701722
Samples
Known GenesHSD17B13
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv525583
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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