A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1717n106



Internal ID20161074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:14620388..14620454hg38UCSC Ensembl
chr19:14731200..14731266hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1133254, nsv1125669
SamplesKWS1, KWS2
Known GenesEMR3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1717n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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