A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv949793



Internal ID16951980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:9264075..9267174hg38UCSC Ensembl
Outerchr4:9265801..9268900hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg383100
hg193100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2996664
SamplesBILGI_BIOE
Known GenesUSP17L12, USP17L21
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv949793
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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