A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594905



Internal ID16035628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:94758193..94758701hg38UCSC Ensembl
Innerchr4:95679344..95679852hg19UCSC Ensembl
Innerchr4:95898367..95898875hg18UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg38509
hg19509
hg18509
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1003367
Samples
Known GenesBMPR1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594905
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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