A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1015914



Internal ID18758448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180953191..181044823hg38UCSC Ensembl
Innerchr5:180380191..180471823hg19UCSC Ensembl
Innerchr5:180312797..180404429hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3891633
hg1991633
hg1891633
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5856n100
Supporting Variantsnssv3650320
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)nsv1015914
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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