A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1135837



Internal ID18928759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:835534..859071hg38UCSC Ensembl
Outerchr19:835534..859071hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3823538
hg1923538
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1679n106
Supporting Variantsnssv3989428
SamplesKWS1
Known GenesELANE, PRTN3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1135837
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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