A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056986



Internal ID18799517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45470845..45556768hg38UCSC Ensembl
Innerchr21:46890759..46976682hg19UCSC Ensembl
Innerchr21:45715187..45801110hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3885924
hg1985924
hg1885924
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4438n100
Supporting Variantsnssv3600264, nssv3600263
Samples
Known GenesCOL18A1, 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)nsv1056986
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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