A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228423



Internal ID22370608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:25185737..25191545hg38UCSC Ensembl
Outerchr2:25408606..25414414hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38797
hg19797
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264571, nssv14264565, nssv14264568, nssv14264569, nssv14264570, nssv14264563, nssv14264566, nssv14264564, nssv14264567
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228423
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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