A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3285857



Internal ID22384238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:93231314..93231408hg38UCSC Ensembl
chr13:93883567..93883661hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2386n152
Supporting Variantsnssv14402124
SamplesNA19240
Known GenesGPC6
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)nsv3285857
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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