A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063987



Internal ID19153206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13270143..13804567hg38UCSC Ensembl
Innerchr21:14642464..15176888hg19UCSC Ensembl
Innerchr21:13564335..14098759hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38534425
hg19534425
hg18534425
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4382n100
Supporting Variantsnssv3585322
Samples
Known GenesLOC100288966, MIR3156-3, MIR8069, POTED
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063987
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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