A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952802



Internal ID17301676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:149808246..149816546hg38UCSC Ensembl
Outerchr1:149779801..149788100hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg388301
hg198300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997317
SamplesBILGI_BIOE
Known GenesHIST2H2BF, HIST2H3D
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952802
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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