A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591823



Internal ID16032546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:133573258..133574774hg38UCSC Ensembl
Innerchr3:133292102..133293618hg19UCSC Ensembl
Innerchr3:134774792..134776308hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg381517
hg191517
hg181517
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8609n54
Supporting Variantsnssv974349
Samples
Known GenesCDV3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591823
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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