A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694954



Internal ID15431606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:66712529..66735476hg38UCSC Ensembl
Innerchr5:66008357..66031304hg19UCSC Ensembl
Innerchr5:66044113..66067060hg18UCSC Ensembl
Innerchr5:66044113..66067060hg17UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg3822948
hg1922948
hg1822948
hg1722948
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522181
Supporting Variants
Samples
Known GenesMAST4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694954
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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