A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058212



Internal ID18800743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:42405410..42461452hg38UCSC Ensembl
Innerchr21:43825519..43881562hg19UCSC Ensembl
Innerchr21:42698588..42754631hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3856043
hg1956044
hg1856044
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3733455
Samples
Known GenesUBASH3A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058212
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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