A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3681n54



Internal ID22771576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:43291746..43790086hg38UCSC Ensembl
chr14:43760949..44259289hg19UCSC Ensembl
chr14:42830699..43329039hg18UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38498341
hg19498341
hg18498341
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv564640, nsv564637, nsv564638, nsv564634, nsv564635, nsv564639, nsv564629, nsv564641, nsv564643
SamplesNINDS_9, 1780862300_A, 1780854533_A, HGDP01172
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv3681n54
Frequency
Sample Size17421
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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