A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14406882



Internal ID22312316
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 StatusS
Merged Variantsnsv3296773
Supporting Variants
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)nssv14406882
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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