A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1700n106



Internal ID20161057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:6533189..6533989hg38UCSC Ensembl
chr19:6533200..6534000hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1136271, nsv1118810
SamplesKWS2, KWS1
Known GenesTNFSF9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1700n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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