A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211703



Internal ID22359178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:98739867..98774811hg38UCSC Ensembl
Outerchr4:99661018..99695962hg19UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg381394
hg191394
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274183, nssv14274186, nssv14274182, nssv14274185, nssv14274184, nssv14274188, nssv14274187, nssv14274189
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211703
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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