A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1782n106



Internal ID22795610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40684795..40690495hg38UCSC Ensembl
chr19:41190700..41196400hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg385701
hg195701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1128781, nsv1115549
SamplesKWS2, KWS1
Known GenesNUMBL
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1782n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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