A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066573



Internal ID18809104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:26724037..27002035hg38UCSC Ensembl
Innerchr21:28096356..28374354hg19UCSC Ensembl
Innerchr21:27018227..27296225hg18UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg38277999
hg19277999
hg18277999
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3600084
Samples
Known GenesADAMTS1, ADAMTS5, MIR4759
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066573
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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