A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116020



Internal ID19275908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:8817458..8817520hg38UCSC Ensembl
Outerchr4:8819184..8819246hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978582
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116020
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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