A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067330



Internal ID18809861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:39470022..39507626hg38UCSC Ensembl
Innerchr21:40841948..40879552hg19UCSC Ensembl
Innerchr21:39763818..39801422hg18UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3837605
hg1937605
hg1837605
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3600207
Samples
Known GenesSH3BGR
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1067330
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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