A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052643



Internal ID19141862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:70161932..70198262hg38UCSC Ensembl
Innerchr13:70736064..70772394hg19UCSC Ensembl
Innerchr13:69634065..69670395hg18UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3836331
hg1936331
hg1836331
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1712n100
Supporting Variantsnssv3713205, nssv3713203, nssv3713204, nssv3529294, nssv3529293
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052643
Frequency
Sample Size11257
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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