A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594903



Internal ID16382312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:94758003..94758590hg38UCSC Ensembl
Innerchr4:95679154..95679741hg19UCSC Ensembl
Innerchr4:95898177..95898764hg18UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg38588
hg19588
hg18588
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9174n54
Supporting Variantsnssv1003364
Samples
Known GenesBMPR1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594903
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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