A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1820n106



Internal ID20161177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55153676..55153776hg38UCSC Ensembl
chr19:55665044..55665144hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1129201, nsv1125209
SamplesKWS2, KWS1
Known GenesTNNI3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1820n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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