A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3647974



Internal ID18946255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:119181183..119253802hg38UCSC Ensembl
Innerchr5:118516878..118589497hg19UCSC Ensembl
Innerchr5:118544777..118617396hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3872620
hg1972620
hg1872620
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1031914
Supporting Variants
Samples
Known GenesDMXL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3647974
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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