A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222212



Internal ID22366360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:168451216..168489205hg38UCSC Ensembl
Outerchr1:168420454..168458443hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg381788
hg191788
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265430, nssv14265432, nssv14265433, nssv14265431, nssv14265436, nssv14265429, nssv14265434, nssv14265428, nssv14265435
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)nsv3222212
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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