A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6731n54



Internal ID22774626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:20223503..20225077hg38UCSC Ensembl
chr2:20423264..20424838hg19UCSC Ensembl
chr2:20286745..20288319hg18UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg381575
hg191575
hg181575
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv581159, nsv581158
Samples
Known GenesSDC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6731n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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