A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057219



Internal ID18799750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:12748832..13357690hg38UCSC Ensembl
Innerchr20:12729479..13338337hg19UCSC Ensembl
Innerchr20:12677479..13286337hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38608859
hg19608859
hg18608859
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4247n100
Supporting Variantsnssv3599392
Samples
Known GenesISM1, ISM1-AS1, SPTLC3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057219
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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