A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3647217



Internal ID18945498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:116982272..117041378hg38UCSC Ensembl
Innerchr5:116317968..116377074hg19UCSC Ensembl
Innerchr5:116345867..116404973hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3859107
hg1959107
hg1859107
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1016586
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)nssv3647217
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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