A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519476



Internal ID15100083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:194645278..194972500hg38UCSC Ensembl
Innerchr3:194366007..194693229hg19UCSC Ensembl
Innerchr3:195847296..196174518hg18UCSC Ensembl
Innerchr3:195847304..196174526hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38327223
hg19327223
hg18327223
hg17327223
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696873
Samples
Known GenesFAM43A, LOC100507391, LSG1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519476
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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