A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv949858



Internal ID16952045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:184100548..184108847hg38UCSC Ensembl
Outerchr4:185021701..185030000hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg388300
hg198300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2996818
SamplesBILGI_BIOE
Known GenesENPP6
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv949858
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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