A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230268



Internal ID22371841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:155668146..155708525hg38UCSC Ensembl
Outerchr2:156524658..156565037hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg385979
hg195979
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265568, nssv14265567, nssv14265564, nssv14265565, nssv14265566
SamplesHG00512, NA19238, HG00731, HG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230268
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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