A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14439131



Internal ID22235930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:116678849..116679523hg38UCSC Ensembl
chr8:117691088..117691762hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg38675
hg19675
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3284807
Supporting Variants
SamplesHG00733
Known GenesEIF3H
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)nssv14439131
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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