A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593781



Internal ID16034504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:17030351..17591490hg38UCSC Ensembl
Innerchr4:17031974..17593113hg19UCSC Ensembl
Innerchr4:16641072..17202211hg18UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg38561140
hg19561140
hg18561140
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv993115
Samples
Known GenesCLRN2, LAP3, QDPR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593781
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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