A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063038



Internal ID18805569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45485910..45559862hg38UCSC Ensembl
Innerchr21:46905824..46979776hg19UCSC Ensembl
Innerchr21:45730252..45804204hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3873953
hg1973953
hg1873953
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4438n100
Supporting Variantsnssv3600279, nssv3600280, nssv3600276, nssv3600278, nssv3600277
Samples
Known GenesCOL18A1, SLC19A1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063038
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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