A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594904



Internal ID16382313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:94758003..94758645hg38UCSC Ensembl
Innerchr4:95679154..95679796hg19UCSC Ensembl
Innerchr4:95898177..95898819hg18UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg38643
hg19643
hg18643
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9174n54
Supporting Variantsnssv1003365, nssv1003366
Samples
Known GenesBMPR1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594904
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer