A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058953



Internal ID19148172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:37072230..37088728hg38UCSC Ensembl
Innerchr20:35700633..35717131hg19UCSC Ensembl
Innerchr20:35134047..35150545hg18UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg3816499
hg1916499
hg1816499
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3737197
Samples
Known GenesRBL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058953
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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