A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061087



Internal ID18803618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46056174..46223305hg38UCSC Ensembl
Innerchr21:47476088..47643219hg19UCSC Ensembl
Innerchr21:46300516..46467647hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38167132
hg19167132
hg18167132
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3733462
Samples
Known GenesCOL6A2, FTCD, LSS, SPATC1L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061087
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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