A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511518



Internal ID15850943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:39360534..39361014hg38UCSC Ensembl
Outerchr13:39359940..39362766hg38UCSC Ensembl
Innerchr13:39934671..39935151hg19UCSC Ensembl
Outerchr13:39934077..39936903hg19UCSC Ensembl
Innerchr13:38832671..38833151hg18UCSC Ensembl
Outerchr13:38832077..38834903hg18UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg382827
hg192827
hg182827
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626138
Samples1
Known GenesLHFP
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511518
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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