A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3647973



Internal ID18946254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:119170653..119264696hg38UCSC Ensembl
Innerchr5:118506348..118600391hg19UCSC Ensembl
Innerchr5:118534247..118628290hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3894044
hg1994044
hg1894044
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1034616
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)nssv3647973
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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