A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060853



Internal ID19150072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:13235219..13303956hg38UCSC Ensembl
Innerchr20:13215866..13284603hg19UCSC Ensembl
Innerchr20:13163866..13232603hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3868738
hg1968738
hg1868738
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3599401
Samples
Known GenesISM1, ISM1-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060853
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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