A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123211



Internal ID18937226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:5272368..5272426hg38UCSC Ensembl
Outerchr19:5272379..5272437hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3972207
SamplesKWS2
Known GenesPTPRS
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123211
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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