A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058550



Internal ID18801081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:44807248..44898019hg38UCSC Ensembl
Innerchr21:46227163..46317934hg19UCSC Ensembl
Innerchr21:45051591..45142362hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3890772
hg1990772
hg1890772
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3600224
Samples
Known GenesITGB2, PTTG1IP, SUMO3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058550
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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