A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197232



Internal ID22347136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:102946118..102970159hg38UCSC Ensembl
Outerchr4:103867275..103891316hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg3824042
hg1924042
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6777n152
Supporting Variantsnssv14272772
SamplesHG00514
Known GenesSLC9B1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197232
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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