A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512315



Internal ID15851740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:48958804..48962542hg38UCSC Ensembl
Outerchr13:49532940..49536678hg19UCSC Ensembl
Outerchr13:48430941..48434679hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg383739
hg193739
hg183739
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624895
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)nsv512315
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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