A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3650319



Internal ID18601914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180953191..181031757hg38UCSC Ensembl
Innerchr5:180380191..180458757hg19UCSC Ensembl
Innerchr5:180312797..180391363hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3878567
hg1978567
hg1878567
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1025651
Supporting Variants
Samples
Known GenesBTNL3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3650319
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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