A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1134760



Internal ID18932740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:16451979..16452032hg38UCSC Ensembl
Outerchr19:16562790..16562843hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3972643
SamplesKWS2
Known GenesEPS15L1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1134760
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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