A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594906



Internal ID16382315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:94792528..94834393hg38UCSC Ensembl
Innerchr4:95713679..95755544hg19UCSC Ensembl
Innerchr4:95932702..95974567hg18UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg3841866
hg1941866
hg1841866
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1003368
Samples
Known GenesBMPR1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594906
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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