A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1032330



Internal ID18774864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180960126..181015429hg38UCSC Ensembl
Innerchr5:180387126..180442429hg19UCSC Ensembl
Innerchr5:180319732..180375035hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3855304
hg1955304
hg1855304
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5854n100
Supporting Variantsnssv3650322
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)nsv1032330
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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