A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3563005



Internal ID22431747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:193362759..193362759hg38UCSC Ensembl
chr3:193080548..193080548hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14311931, nssv14311929, nssv14311930
SamplesHG00512, HG00513, HG00514
Known GenesATP13A5
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3563005
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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