A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3206265



Internal ID22354832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:158471977..158476179hg38UCSC Ensembl
chr4:159393129..159397331hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg384203
hg194203
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6912n152
Supporting Variantsnssv14317053, nssv14317050, nssv14317054, nssv14317052, nssv14317051, nssv14317049
SamplesHG00512, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3206265
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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