A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1134804



Internal ID18938218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:49096253..49096320hg38UCSC Ensembl
Outerchr19:49599510..49599577hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3972690
SamplesKWS2
Known GenesSNRNP70
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1134804
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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