A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064798



Internal ID19154017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13221902..13765257hg38UCSC Ensembl
Innerchr21:14594223..15137578hg19UCSC Ensembl
Innerchr21:13516094..14059449hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38543356
hg19543356
hg18543356
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4382n100
Supporting Variantsnssv3585294, nssv3585295
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)nsv1064798
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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