A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198222



Internal ID22347976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:93618175..93647946hg38UCSC Ensembl
Outerchr4:94539326..94569097hg19UCSC Ensembl
Cytoband4q22.2
Allele length
AssemblyAllele length
hg3829772
hg1929772
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272976, nssv14272978, nssv14272971, nssv14272977, nssv14272973, nssv14272972, nssv14272975, nssv14272974
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00514
Known GenesGRID2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198222
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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