A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578556



Internal ID16019279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:8390428..8390995hg38UCSC Ensembl
Innerchr19:8455312..8455879hg19UCSC Ensembl
Innerchr19:8361312..8361879hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38568
hg19568
hg18568
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6257n54
Supporting Variantsnssv893402
Samples
Known GenesRAB11B, RAB11B-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578556
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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