A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3650323



Internal ID18601918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180960126..181062103hg38UCSC Ensembl
Innerchr5:180387126..180489103hg19UCSC Ensembl
Innerchr5:180319732..180421709hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38101978
hg19101978
hg18101978
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1016892
Supporting Variants
Samples
Known GenesBTNL3, BTNL9, MIR8089
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3650323
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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