A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231118



Internal ID22372137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:45145788..45201506hg38UCSC Ensembl
Outerchr19:45649046..45704764hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381235
hg191235
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264743, nssv14264748, nssv14264744, nssv14264747, nssv14264745, nssv14264750, nssv14264742, nssv14264749, nssv14264746
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesBLOC1S3, NKPD1, PPP1R37, TRAPPC6A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231118
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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