A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv949947



Internal ID16952134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:129854161..129861060hg38UCSC Ensembl
Outerchr7:129494001..129500900hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg386900
hg196900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998588
SamplesBILGI_BIOE
Known GenesUBE2H
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv949947
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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