A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3640765



Internal ID18939046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:60999523..61113250hg38UCSC Ensembl
Innerchr5:60295350..60409077hg19UCSC Ensembl
Innerchr5:60331107..60444834hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38113728
hg19113728
hg18113728
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1019307
Supporting Variants
Samples
Known GenesNDUFAF2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3640765
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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