A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1047067



Internal ID15900253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180950385..180970216hg38UCSC Ensembl
Innerchr5:180377385..180397216hg19UCSC Ensembl
Innerchr5:180309991..180329822hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3819832
hg1919832
hg1819832
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv600687
Supporting Variants
Samples
Known GenesBTNL8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1047067
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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