A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202877



Internal ID22351978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:108190702..108194628hg38UCSC Ensembl
chr1:108733324..108737250hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg383927
hg193927
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282494, nssv14282498, nssv14282495, nssv14282496, nssv14282497
SamplesNA19239, HG00731, HG00733, HG00513, HG00514
Known GenesSLC25A24
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202877
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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