A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222301



Internal ID22366414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:10005623..10021917hg38UCSC Ensembl
Outerchr2:10145751..10162044hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38959
hg19959
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4472n152
Supporting Variantsnssv14264522, nssv14264518, nssv14264519, nssv14264521, nssv14264520
SamplesHG00512, NA19238, NA19239, HG00731, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222301
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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