A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519695



Internal ID15446988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:234468127..234477304hg38UCSC Ensembl
Innerchr1:234603873..234613050hg19UCSC Ensembl
Innerchr1:232670496..232679673hg18UCSC Ensembl
Innerchr1:230910608..230919785hg17UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg389178
hg199178
hg189178
hg179178
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv29n21
Supporting Variantsnssv696997
Samples
Known GenesTARBP1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519695
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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