A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223042



Internal ID22366930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:35032989..35056995hg38UCSC Ensembl
Outerchr14:35502195..35526201hg19UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg3824007
hg1924007
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257152, nssv14257153, nssv14257154, nssv14257155, nssv14257151
SamplesNA19238, HG00731, HG00733, HG00513, HG00514
Known GenesFAM177A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223042
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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