A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3600217



Internal ID18551812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43547328..43609997hg38UCSC Ensembl
Innerchr21:44967209..45029878hg19UCSC Ensembl
Innerchr21:43791637..43854306hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3862670
hg1962670
hg1862670
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1065359
Supporting Variants
Samples
Known GenesHSF2BP, MIR6070
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3600217
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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