A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511194



Internal ID15850619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:44239960..44241370hg38UCSC Ensembl
Outerchr2:44237490..44244906hg38UCSC Ensembl
Innerchr2:44467099..44468509hg19UCSC Ensembl
Outerchr2:44464629..44472045hg19UCSC Ensembl
Innerchr2:44320603..44322013hg18UCSC Ensembl
Outerchr2:44318133..44325549hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg387417
hg197417
hg187417
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626488
Samples1
Known Genes
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511194
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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