A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058794



Internal ID19148013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:21187408..21681610hg38UCSC Ensembl
Innerchr21:22559727..23053930hg19UCSC Ensembl
Innerchr21:21481598..21975801hg18UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38494203
hg19494204
hg18494204
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4402n100
Supporting Variantsnssv3599882
Samples
Known GenesNCAM2, RNU6-67P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058794
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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