A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3543254



Internal ID22412316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:92347899..92347899hg38UCSC Ensembl
chr13:93000152..93000152hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14443768
SamplesHG00733
Known GenesGPC5
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3543254
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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