A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223547



Internal ID22367282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:70568938..70625573hg38UCSC Ensembl
Outerchr4:71434655..71491290hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg381530
hg191530
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274109, nssv14274106, nssv14274102, nssv14274110, nssv14274107, nssv14274104, nssv14274103, nssv14274108, nssv14274105
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesAMBN
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223547
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer