A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226741



Internal ID22369445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:202170523..202234946hg38UCSC Ensembl
Outerchr1:202139651..202204074hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg383325
hg193325
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265266, nssv14265264, nssv14265261, nssv14265262, nssv14265267, nssv14265260, nssv14265265, nssv14265263, nssv14265259
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLGR6, PTPRVP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226741
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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