A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192533



Internal ID22343106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:63471280..63474637hg38UCSC Ensembl
chr1:63936951..63940308hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg383358
hg193358
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14371734, nssv14371733
SamplesHG00512, HG00513
Known GenesITGB3BP
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192533
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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