A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14463230



Internal ID22215748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:93231314..93231404hg38UCSC Ensembl
chr13:93883567..93883657hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3284796
Supporting Variants
SamplesHG00733
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)nssv14463230
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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