A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv569374



Internal ID16010097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:49252995..49257746hg38UCSC Ensembl
Innerchr15:49545192..49549943hg19UCSC Ensembl
Innerchr15:47332484..47337235hg18UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg384752
hg194752
hg184752
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4522n54
Supporting Variantsnssv842928, nssv842927, nssv842926
Samples
Known GenesGALK2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv569374
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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