A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275077



Internal ID22207172
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194256
Supporting Variants
SamplesHG00732
Known GenesMRFAP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275077
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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