A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516505



Internal ID15097112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:3432609..3502835hg38UCSC Ensembl
Innerchr4:3434336..3504562hg19UCSC Ensembl
Innerchr4:3404134..3474360hg18UCSC Ensembl
Innerchr4:3471305..3541531hg17UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg3870227
hg1970227
hg1870227
hg1770227
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv674645, nssv695086, nssv700507, nssv699348, nssv682140, nssv668735
Samples
Known GenesDOK7, HGFAC, RGS12
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516505
Frequency
Sample Size2026
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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