A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3647233



Internal ID18945514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:119019589..119109549hg38UCSC Ensembl
Innerchr5:118355284..118445244hg19UCSC Ensembl
Innerchr5:118383183..118473143hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3889961
hg1989961
hg1889961
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1018539
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)nssv3647233
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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