A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230964



Internal ID22372088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:2374857..2382907hg38UCSC Ensembl
Outerchr19:2374855..2382905hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381107
hg191107
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263652, nssv14263648, nssv14263653, nssv14263651, nssv14263650, nssv14263649
SamplesHG00512, 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)nsv3230964
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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