A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240990



Internal ID22374841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55704101..55723984hg38UCSC Ensembl
Outerchr19:56215467..56235350hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg382266
hg192266
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263944, nssv14263947, nssv14263942, nssv14263946, nssv14263943, nssv14263941, nssv14263945
SamplesHG00512, NA19238, HG00731, NA19240, HG00733, HG00513, HG00514
Known GenesNLRP9
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240990
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer