A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244141



Internal ID22375781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113805264..113843647hg38UCSC Ensembl
Outerchr13:114508237..114546620hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg382679
hg192679
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2507n152
Supporting Variantsnssv14257487, nssv14257484, nssv14257486, nssv14257485, nssv14257483, nssv14257482
SamplesHG00512, NA19238, NA19239, HG00731, HG00513, HG00514
Known GenesGAS6, GAS6-AS1, TMEM255B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244141
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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