A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3648219



Internal ID18599814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:157003694..157055302hg38UCSC Ensembl
Innerchr5:156430705..156482313hg19UCSC Ensembl
Innerchr5:156363283..156414891hg18UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3851609
hg1951609
hg1851609
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1016820
Supporting Variants
Samples
Known GenesHAVCR1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3648219
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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