A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198147



Internal ID22347914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:138135197..138135258hg38UCSC Ensembl
chr4:139056351..139056412hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6865n152
Supporting Variantsnssv14316074, nssv14316076, nssv14316693, nssv14316692, nssv14316073, nssv14316075
SamplesHG00512, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesSLC7A11-AS1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198147
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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