A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210040



Internal ID22358021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:134499741..134545810hg38UCSC Ensembl
Outerchr4:135420896..135466965hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3846070
hg1946070
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6853n152
Supporting Variantsnssv14273039, nssv14273042, nssv14273038, nssv14273041, nssv14273040, nssv14273036, nssv14273037
SamplesHG00512, NA19238, NA19239, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210040
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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