A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4402n100



Internal ID22790489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:21187408..21735000hg38UCSC Ensembl
chr21:22559727..23107320hg19UCSC Ensembl
chr21:21481598..22029191hg18UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38547593
hg19547594
hg18547594
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1058794, nsv1064746
Samples
Known GenesLINC00317, NCAM2, 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)dgv4402n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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