A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511616



Internal ID15851041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:57169005..57169555hg38UCSC Ensembl
Outerchr19:57168247..57171931hg38UCSC Ensembl
Innerchr19:57680373..57680923hg19UCSC Ensembl
Outerchr19:57679615..57683299hg19UCSC Ensembl
Innerchr19:62372185..62372735hg18UCSC Ensembl
Outerchr19:62371427..62375111hg18UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg383685
hg193685
hg183685
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626247
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)nsv511616
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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