A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193476



Internal ID22343919
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 Variantsnssv14464477, nssv14435536
SamplesHG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193476
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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