A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229228



Internal ID22371138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:26703915..26720726hg38UCSC Ensembl
Outerchr2:26926783..26943594hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg382335
hg192335
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265545, nssv14266039, nssv14265548, nssv14265546, nssv14266038, nssv14266036, nssv14266037, nssv14265547, nssv14266035
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesKCNK3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229228
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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