A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237029



Internal ID22373768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:3581096..3624900hg38UCSC Ensembl
Outerchr18:3581094..3624899hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg381070
hg191070
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262718, nssv14262720, nssv14262721, nssv14262723, nssv14262719, nssv14262722
SamplesHG00512, NA19239, HG00731, HG00732, HG00733, HG00514
Known GenesDLGAP1, DLGAP1-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237029
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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