A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3296773



Internal ID22388598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79408790..79408916hg38UCSC Ensembl
chr18:77168790..77168916hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14406882
SamplesNA19240
Known GenesNFATC1
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)nsv3296773
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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