A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1120469



Internal ID19248319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1026082..1026287hg38UCSC Ensembl
Outerchr4:1019870..1020075hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38206
hg19206
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962064
SamplesKWS1
Known GenesFGFRL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1120469
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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