A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512511



Internal ID15851936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:82974935..82977092hg38UCSC Ensembl
Outerchr17:80932811..80934968hg19UCSC Ensembl
Outerchr17:78526100..78528257hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg382158
hg192158
hg182158
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625113
Samples1
Known GenesB3GNTL1
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512511
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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