A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057607



Internal ID18800138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45333418..45463244hg38UCSC Ensembl
Innerchr21:46753333..46883158hg19UCSC Ensembl
Innerchr21:45577761..45707586hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38129827
hg19129826
hg18129826
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3600225
Samples
Known GenesCOL18A1, COL18A1-AS1, COL18A1-AS2, LINC00316
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057607
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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