A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694840



Internal ID15084806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:168031556..168134835hg38UCSC Ensembl
Innerchr6:168432236..168535515hg19UCSC Ensembl
Innerchr6:168175085..168278364hg18UCSC Ensembl
Innerchr6:168250792..168354071hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38103280
hg19103280
hg18103280
hg17103280
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515568
Supporting Variants
Samples
Known GenesFRMD1, KIF25
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694840
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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