A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3639133



Internal ID18590728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:80559891..80601697hg38UCSC Ensembl
Innerchr5:79855710..79897516hg19UCSC Ensembl
Innerchr5:79891466..79933272hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3841807
hg1941807
hg1841807
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1022154
Supporting Variants
Samples
Known GenesANKRD34B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3639133
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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