A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048293



Internal ID19137512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:66525074..66591941hg38UCSC Ensembl
Innerchr13:67099206..67166073hg19UCSC Ensembl
Innerchr13:65997207..66064074hg18UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg3866868
hg1966868
hg1866868
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1699n100
Supporting Variantsnssv3527923
Samples
Known GenesPCDH9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048293
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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