A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193998



Internal ID22344375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:223798814..223799258hg38UCSC Ensembl
chr1:223986516..223986960hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38445
hg19445
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14308196, nssv14308197, nssv14308195, nssv14308194
SamplesNA19239, HG00731, HG00733, HG00514
Known GenesTP53BP2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193998
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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