A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14438502



Internal ID22181642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:76303619..76303743hg38UCSC Ensembl
chr8:77215854..77215978hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3286845
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14438502
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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