A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525312



Internal ID15105919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:48631519..48757521hg38UCSC Ensembl
Innerchr20:47248057..47374058hg19UCSC Ensembl
Innerchr20:46681464..46807465hg18UCSC Ensembl
Innerchr20:46681464..46807465hg17UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38126003
hg19126002
hg18126002
hg17126002
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv701420
Samples
Known GenesPREX1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv525312
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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