A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229520



Internal ID22371346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:25399451..25414487hg38UCSC Ensembl
Outerchr2:25622320..25637356hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg381004
hg191004
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264572, nssv14264573, nssv14265535, nssv14264574
SamplesHG00512, NA19238, NA19239, NA19240
Known GenesDTNB
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229520
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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