A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240267



Internal ID22374654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:3640920..3651963hg38UCSC Ensembl
Outerchr19:3640918..3651961hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg382802
hg192802
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263009, nssv14263011, nssv14263008, nssv14263010
SamplesHG00512, NA19238, HG00513, HG00514
Known GenesPIP5K1C
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240267
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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