A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3648036



Internal ID18946317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:121038115..121248357hg38UCSC Ensembl
Innerchr5:120373810..120584052hg19UCSC Ensembl
Innerchr5:120401709..120611951hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38210243
hg19210243
hg18210243
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1021763
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3648036
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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