A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513484



Internal ID15852906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:78350475..78351579hg38UCSC Ensembl
Outerchr17:76346556..76347660hg19UCSC Ensembl
Outerchr17:73858151..73859255hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38797
hg19797
hg18797
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625891
Samples1
Known Genes
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513484
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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