A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513754



Internal ID15853175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:43303133..43389808hg38UCSC Ensembl
Outerchr17:41380482..41467176hg19UCSC Ensembl
Outerchr17:38736008..38822702hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3886695
hg1986695
hg1886695
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv627006
Samples1
Known GenesLINC00854, LINC00910
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513754
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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