A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512614



Internal ID15505353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:34653416..34656492hg38UCSC Ensembl
Outerchr20:33241220..33244296hg19UCSC Ensembl
Outerchr20:32704881..32707957hg18UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg383077
hg193077
hg183077
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625227
Samples1
Known GenesPIGU
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512614
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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