A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194256



Internal ID22344591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:6642250..6668373hg38UCSC Ensembl
Outerchr4:6643977..6670100hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3826124
hg1926124
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275078, nssv14275076, nssv14275077, nssv14275075
SamplesHG00732, HG00733, HG00513, HG00514
Known GenesMRFAP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194256
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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