A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3600227



Internal ID18551822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45419655..45546266hg38UCSC Ensembl
Innerchr21:46839570..46966180hg19UCSC Ensembl
Innerchr21:45663998..45790608hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38126612
hg19126611
hg18126611
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1066282
Supporting Variants
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)nssv3600227
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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