A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521444



Internal ID15102051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:74139302..75679218hg38UCSC Ensembl
Innerchr13:74713439..76253354hg19UCSC Ensembl
Innerchr13:73611440..75151355hg18UCSC Ensembl
Innerchr13:73611440..75151355hg17UCSC Ensembl
Cytoband13q22.1
Allele length
AssemblyAllele length
hg381539917
hg191539916
hg181539916
hg171539916
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698055
Samples
Known GenesCOMMD6, CTAGE11P, LINC00347, LINC00381, LMO7, TBC1D4, UCHL3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521444
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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