A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226109



Internal ID22369029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:61383724..61407351hg38UCSC Ensembl
Outerchr1:61849396..61873023hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381923
hg191923
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262419, nssv14262420, nssv14262422, nssv14262416, nssv14262421, nssv14262418, nssv14262417
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00513, HG00514
Known GenesNFIA
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226109
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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