A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028587



Internal ID18771118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180951876..181035594hg38UCSC Ensembl
Innerchr5:180378876..180462594hg19UCSC Ensembl
Innerchr5:180311482..180395200hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3883719
hg1983719
hg1883719
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5856n100
Supporting Variantsnssv3650309
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)nsv1028587
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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