A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3746700



Internal ID18698295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180932733..181015908hg38UCSC Ensembl
Innerchr5:180359733..180442908hg19UCSC Ensembl
Innerchr5:180292339..180375514hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3883176
hg1983176
hg1883176
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1028549
Supporting Variants
Samples
Known GenesBTNL3, BTNL8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3746700
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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