A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512641



Internal ID15505380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:43550398..43553639hg38UCSC Ensembl
Outerchr21:44970279..44973520hg19UCSC Ensembl
Outerchr21:43794707..43797948hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383242
hg193242
hg183242
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625257
Samples1
Known GenesHSF2BP
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512641
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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