A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950350



Internal ID16952537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:85673448..85681847hg38UCSC Ensembl
Outerchr4:86594601..86603000hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg388400
hg198400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2996739
SamplesBILGI_BIOE
Known GenesARHGAP24
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950350
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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