A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999345



Internal ID19158881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:168941156..168961792hg38UCSC Ensembl
Innerchr2:169797666..169818302hg19UCSC Ensembl
Innerchr2:169505912..169526548hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3820637
hg1920637
hg1820637
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4103n100
Supporting Variantsnssv3583024, nssv3583025
Samples
Known GenesABCB11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999345
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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