A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222744



Internal ID22366721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:55236944..55240309hg38UCSC Ensembl
Outerchr1:55702617..55705982hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381654
hg191654
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262744, nssv14262743, nssv14262745, nssv14262740, nssv14262739, nssv14262746, nssv14262742, nssv14262741, nssv14262747
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222744
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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