A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv349n54



Internal ID22768244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:85200587..85201703hg38UCSC Ensembl
chr1:85666270..85667386hg19UCSC Ensembl
chr1:85438858..85439974hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg381117
hg191117
hg181117
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546705, nsv546716, nsv546718, nsv546707, nsv546711, nsv546717, nsv546714, nsv546710, nsv546713, nsv546712
Samples
Known GenesSYDE2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv349n54
Frequency
Sample Size17421
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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