A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3427n106



Internal ID22797255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:160634568..160646768hg38UCSC Ensembl
chr6:161055600..161067800hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3812201
hg1912201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1132631, nsv1139876
SamplesKWS2, KWS1
Known GenesLPA
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv3427n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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