A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062246



Internal ID19151465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:42091069..42160905hg38UCSC Ensembl
Innerchr21:43511179..43581015hg19UCSC Ensembl
Innerchr21:42384248..42454084hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3869837
hg1969837
hg1869837
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3600212
Samples
Known GenesC21orf128, UMODL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062246
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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