A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1815n106



Internal ID20161172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:53982346..53983346hg38UCSC Ensembl
chr19:54485600..54486600hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1121985, nsv1144881
SamplesKWS1, KWS2
Known GenesCACNG8, MIR935
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1815n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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