A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129741



Internal ID18925350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:343392..343466hg38UCSC Ensembl
Outerchr5:343507..343581hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3964059
SamplesKWS1
Known GenesAHRR
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129741
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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