A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1697n106



Internal ID22795525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:5742220..5742281hg38UCSC Ensembl
chr19:5742231..5742292hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1133252, nsv1142925
SamplesKWS2, KWS1
Known GenesCATSPERD
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1697n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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