A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064839



Internal ID18807370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:36103179..36248226hg38UCSC Ensembl
Innerchr21:37475477..37620524hg19UCSC Ensembl
Innerchr21:36397347..36542394hg18UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38145048
hg19145048
hg18145048
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4427n100
Supporting Variantsnssv3600155, nssv3600154
Samples
Known GenesCBR3, CBR3-AS1, DOPEY2, LOC100133286
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064839
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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