A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228631



Internal ID22370754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:167195831..167212125hg38UCSC Ensembl
Outerchr1:167165068..167181362hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg384279
hg194279
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv456n152
Supporting Variantsnssv14265397, nssv14265400, nssv14265402, nssv14265395, nssv14265401, nssv14265396, nssv14265398, nssv14265399
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228631
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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