A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210605



Internal ID22358448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:180381031..180393849hg38UCSC Ensembl
Outerchr4:181302184..181315002hg19UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg381935
hg191935
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273108, nssv14273110, nssv14273107, nssv14273109
SamplesHG00512, NA19238, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210605
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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