A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv725n106



Internal ID20160082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:114548878..114554178hg38UCSC Ensembl
chr11:114419600..114424900hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg385301
hg195301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1124649, nsv1118500
SamplesKWS2, KWS1
Known GenesNXPE1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv725n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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