A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230103



Internal ID22371736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:119389656..119408412hg38UCSC Ensembl
Outerchr4:120310811..120329567hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38706
hg19706
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274231, nssv14274230
SamplesHG00731, HG00513
Known GenesLINC01061
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230103
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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