A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1714n106



Internal ID20161071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:13376819..13376901hg38UCSC Ensembl
chr19:13487633..13487715hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1120355, nsv1142929
SamplesKWS1, KWS2
Known GenesCACNA1A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1714n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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