A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999588



Internal ID18812438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:94795912..94842709hg38UCSC Ensembl
Innerchr4:95717063..95763860hg19UCSC Ensembl
Innerchr4:95936086..95982883hg18UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg3846798
hg1946798
hg1846798
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5342n100
Supporting Variantsnssv3630981
Samples
Known GenesBMPR1B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999588
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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