A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228162



Internal ID22370434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:144337133..144368943hg38UCSC Ensembl
Outerchr7:144034226..144066036hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3831811
hg1931811
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278791, nssv14278794, nssv14278792, nssv14278790, nssv14278793
SamplesHG00512, NA19239, HG00731, HG00733, HG00514
Known GenesARHGEF5, RNU6-57P
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228162
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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