A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212797



Internal ID22359942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:75699425..75705548hg38UCSC Ensembl
Outerchr4:76624609..76630732hg19UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg38907
hg19907
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273895, nssv14273893, nssv14273892, nssv14273894
SamplesHG00512, NA19239, HG00731, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212797
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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