A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14402124



Internal ID22302128
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 StatusS
Merged Variantsnsv3285857
Supporting Variants
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)nssv14402124
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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