A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511775



Internal ID15504514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:32999346..33002932hg38UCSC Ensembl
Outerchr2:33224413..33227999hg19UCSC Ensembl
Outerchr2:33077917..33081503hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg383587
hg193587
hg183587
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626424
Samples1
Known GenesLTBP1
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511775
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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