A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv951117



Internal ID17299991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:26039985..26051984hg38UCSC Ensembl
Outerchr8:25897501..25909500hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg3812000
hg1912000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998711
SamplesBILGI_BIOE
Known GenesEBF2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv951117
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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