A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064083



Internal ID19153302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46622491..46654452hg38UCSC Ensembl
Innerchr21:48042403..48074364hg19UCSC Ensembl
Innerchr21:46866831..46898792hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3831962
hg1931962
hg1831962
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4447n100
Supporting Variantsnssv3600343
Samples
Known GenesPRMT2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064083
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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