A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239188



Internal ID22374361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113793684..113843889hg38UCSC Ensembl
Outerchr13:114496657..114546862hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381748
hg191748
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2505n152
Supporting Variantsnssv14257308, nssv14257307
SamplesNA19239, NA19240
Known GenesGAS6, GAS6-AS1, TMEM255B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239188
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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