A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118808



Internal ID18901456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:5340489..5341289hg38UCSC Ensembl
Outerchr19:5340500..5341300hg19UCSC 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 Variantsnssv3981122
SamplesKWS1
Known GenesPTPRS
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118808
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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