A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516417



Internal ID15097024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:65242633..65373887hg38UCSC Ensembl
Innerchr6:65952526..66083780hg19UCSC Ensembl
Innerchr6:66009247..66140501hg18UCSC Ensembl
Innerchr6:66009247..66140501hg17UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg38131255
hg19131255
hg18131255
hg17131255
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv668234, nssv699224, nssv670328
Samples
Known GenesEYS, LOC441155
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516417
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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