A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123488



Internal ID18911909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:42087655..42087707hg38UCSC Ensembl
Outerchr20:40716295..40716347hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3973248
SamplesKWS2
Known GenesPTPRT
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123488
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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