A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513248



Internal ID15852670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:94580195..94581170hg38UCSC Ensembl
Outerchr5:93915900..93916875hg19UCSC Ensembl
Outerchr5:93941656..93942631hg18UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38976
hg19976
hg18976
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626753
Samples1
Known GenesKIAA0825
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513248
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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