A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518579



Internal ID15099186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:94785186..94834393hg38UCSC Ensembl
Innerchr4:95706337..95755544hg19UCSC Ensembl
Innerchr4:95925360..95974567hg18UCSC Ensembl
Innerchr4:96063515..96112722hg17UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg3849208
hg1949208
hg1849208
hg1749208
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696023
Samples
Known GenesBMPR1B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518579
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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