A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057447



Internal ID18799978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45419655..45556768hg38UCSC Ensembl
Innerchr21:46839570..46976682hg19UCSC Ensembl
Innerchr21:45663998..45801110hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38137114
hg19137113
hg18137113
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4436n100
Supporting Variantsnssv3600230, nssv3600229, nssv3600231, nssv3600228, nssv3600232
Samples
Known GenesCOL18A1, COL18A1-AS1, MIR6815, SLC19A1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057447
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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