A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056327



Internal ID18798858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:17366575..17763918hg38UCSC Ensembl
Innerchr21:18738894..19136235hg19UCSC Ensembl
Innerchr21:17660765..18058106hg18UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38397344
hg19397342
hg18397342
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4391n100
Supporting Variantsnssv3599676
Samples
Known GenesBTG3, C21orf37, CXADR
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056327
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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