A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv675096



Internal ID15065062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:157257901..157272119hg38UCSC Ensembl
Innerchr5:156684911..156699129hg19UCSC Ensembl
Innerchr5:156617489..156631707hg18UCSC Ensembl
Innerchr5:156617489..156631707hg17UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3814219
hg1914219
hg1814219
hg1714219
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515686
Supporting Variants
Samples
Known GenesCYFIP2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv675096
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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