A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063752



Internal ID18806283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43986214..44040461hg38UCSC Ensembl
Innerchr21:45406095..45460342hg19UCSC Ensembl
Innerchr21:44230523..44284770hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3854248
hg1954248
hg1854248
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3733458
Samples
Known GenesAGPAT3, TRAPPC10
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063752
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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