A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512494



Internal ID15505233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:50349188..50352318hg38UCSC Ensembl
Outerchr17:48426549..48429679hg19UCSC Ensembl
Outerchr17:45781548..45784678hg18UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg383131
hg193131
hg183131
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625094
Samples1
Known GenesXYLT2
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512494
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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