A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv450n106



Internal ID20159807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46966862..47075962hg38UCSC Ensembl
chr10:48663400..48772500hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38109101
hg19109101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1112587, nsv1126255
SamplesKWS1, KWS2
Known GenesPTPN20A, PTPN20B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv450n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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