A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1032453



Internal ID18774987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167975551..168195239hg38UCSC Ensembl
Innerchr6:168376231..168595919hg19UCSC Ensembl
Innerchr6:168119080..168338768hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38219689
hg19219689
hg18219689
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6199n100
Supporting Variantsnssv3653060
Samples
Known GenesFRMD1, HGC6.3, KIF25, KIF25-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1032453
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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