A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063371



Internal ID19152590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:26910341..26922672hg38UCSC Ensembl
Innerchr21:28282660..28294991hg19UCSC Ensembl
Innerchr21:27204531..27216862hg18UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg3812332
hg1912332
hg1812332
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4420n100
Supporting Variantsnssv3600088, nssv3600086, nssv3600087
Samples
Known GenesADAMTS5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063371
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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