A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3755326



Internal ID18706921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:73245562..73420814hg38UCSC Ensembl
Innerchr7:72659595..72835144hg19UCSC Ensembl
Innerchr7:72297531..72473080hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38175253
hg19175550
hg18175550
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1019798
Supporting Variants
Samples
Known GenesFKBP6, NSUN5, TRIM50
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3755326
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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