A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058035



Internal ID18800566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:13237243..13268695hg38UCSC Ensembl
Innerchr20:13217890..13249342hg19UCSC Ensembl
Innerchr20:13165890..13197342hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3831453
hg1931453
hg1831453
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3599402
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)nsv1058035
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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