A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv482n106



Internal ID20159839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:77470942..77472542hg38UCSC Ensembl
chr10:79230700..79232300hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg381601
hg191601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1141178, nsv1110177
SamplesKWS1, KWS2
Known GenesKCNMA1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv482n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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