A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116289



Internal ID18913722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1144818..1144916hg38UCSC Ensembl
Outerchr19:1144817..1144915hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3954651
SamplesKWS1
Known GenesSBNO2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116289
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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