A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197787



Internal ID22347624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:151855278..151894725hg38UCSC Ensembl
Outerchr4:152776430..152815877hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg3839448
hg1939448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273716, nssv14273069, nssv14273068
SamplesNA19238, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197787
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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