A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv670328



Internal ID15060294
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516417
Supporting Variants
Samples
Known GenesEYS, LOC441155
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv670328
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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