A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221677



Internal ID22365977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:25480017..25512406hg38UCSC Ensembl
chr13:26054155..26086544hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg3832390
hg1932390
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14367415, nssv14367414
SamplesNA19239, NA19240
Known GenesATP8A2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221677
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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