A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222651



Internal ID22366663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:54091903..54179376hg38UCSC Ensembl
Outerchr4:54958070..55045543hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg381466
hg191466
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274054, nssv14274047, nssv14274051, nssv14274053, nssv14274046, nssv14274049, nssv14274050, nssv14274048, nssv14274052
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesGSX2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222651
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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