A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226636



Internal ID22369370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:149379616..149386990hg38UCSC Ensembl
Outerchr3:149097403..149104777hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg38944
hg19944
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271582, nssv14271581, nssv14271583, nssv14271580, nssv14271579, nssv14271578
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226636
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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