A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012367



Internal ID19101584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:168941156..168964622hg38UCSC Ensembl
Innerchr2:169797666..169821132hg19UCSC Ensembl
Innerchr2:169505912..169529378hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3823467
hg1923467
hg1823467
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4103n100
Supporting Variantsnssv3583026, nssv3583027
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)nsv1012367
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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