A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053812



Internal ID19143031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:63727459..63819987hg38UCSC Ensembl
Innerchr13:64301592..64394120hg19UCSC Ensembl
Innerchr13:63199593..63292121hg18UCSC Ensembl
Cytoband13q21.31
Allele length
AssemblyAllele length
hg3892529
hg1992529
hg1892529
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1689n100
Supporting Variantsnssv3526667, nssv3526671, nssv3711787, nssv3526670, nssv3526678, nssv3526665, nssv3526664, nssv3526677, nssv3526668, nssv3711789, nssv3526672, nssv3526676, nssv3526681, nssv3526675, nssv3526669, nssv3526674, nssv3711788, nssv3526680, nssv3526663, nssv3526666, nssv3526673, nssv3526679
Samples
Known GenesLINC00395, OR7E156P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053812
Frequency
Sample Size11257
Observed Gain6
Observed Loss16
Observed Complex0
Frequencyn/a


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