A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512475



Internal ID15851900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:7036255..7037942hg38UCSC Ensembl
Outerchr17:6939574..6941261hg19UCSC Ensembl
Outerchr17:6880298..6881985hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381688
hg191688
hg181688
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625073
Samples1
Known GenesSLC16A13
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512475
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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