A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048814



Internal ID18791345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:113081728..113611496hg38UCSC Ensembl
Innerchr13:113736042..114265811hg19UCSC Ensembl
Innerchr13:112784043..113313812hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38529769
hg19529770
hg18529770
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3525618
Samples
Known GenesADPRHL1, CUL4A, DCUN1D2, F10, F7, GRTP1, LAMP1, MCF2L, MIR8075, PCID2, PROZ, TFDP1, TMCO3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048814
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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