A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594512



Internal ID16035235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68509002..68626968hg38UCSC Ensembl
Innerchr4:69374720..69492686hg19UCSC Ensembl
Innerchr4:69057315..69175281hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38117967
hg19117967
hg18117967
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9104n54
Supporting Variantsnssv1001811, nssv1001810
Samples
Known GenesUGT2B17
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594512
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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