A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125247



Internal ID18926204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:397257..397314hg38UCSC Ensembl
Outerchr5:397372..397429hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3983418
SamplesKWS2
Known GenesAHRR
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125247
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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