A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3642121



Internal ID18593716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:50159790..50825789hg38UCSC Ensembl
Innerchr5:49455624..50121623hg19UCSC Ensembl
Innerchr5:49491381..50157380hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg38666000
hg19666000
hg18666000
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1023140
Supporting Variants
Samples
Known GenesEMB, PARP8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3642121
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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