A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3745850



Internal ID18697445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:21989447..23444297hg38UCSC Ensembl
Innerchr5:21989556..23444406hg19UCSC Ensembl
Innerchr5:22025313..23480163hg18UCSC Ensembl
Cytoband5p14.2
Allele length
AssemblyAllele length
hg381454851
hg191454851
hg181454851
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1031398
Supporting Variants
Samples
Known GenesCDH12, PMCHL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3745850
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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