A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv553978



Internal ID16341387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:31373337..31375414hg38UCSC Ensembl
Innerchr11:31394884..31396961hg19UCSC Ensembl
Innerchr11:31351460..31353537hg18UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg382078
hg192078
hg182078
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1738n54
Supporting Variantsnssv771033, nssv771032
Samples
Known GenesDNAJC24
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv553978
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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