A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3744585



Internal ID19042866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:575178..685633hg38UCSC Ensembl
Innerchr5:575293..685748hg19UCSC Ensembl
Innerchr5:628293..738748hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38110456
hg19110456
hg18110456
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1029837
Supporting Variants
Samples
Known GenesCEP72, LOC100996325, TPPP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3744585
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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