A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050275



Internal ID18792806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46481988..46631445hg38UCSC Ensembl
Innerchr10:46918172..47067469hg19UCSC Ensembl
Innerchr10:46338178..46487475hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38149458
hg19149298
hg18149298
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv751n100
Supporting Variantsnssv3519951
Samples
Known GenesFAM35BP, GPRIN2, SYT15
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050275
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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