A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513243



Internal ID15852665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:76170295..76173554hg38UCSC Ensembl
Outerchr5:75466120..75469379hg19UCSC Ensembl
Outerchr5:75501876..75505135hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg383260
hg193260
hg183260
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626748
Samples1
Known GenesSV2C
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513243
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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