A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14438113



Internal ID22181223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:39045043..39045107hg38UCSC Ensembl
chr8:38902562..38902626hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3287573
Supporting Variants
SamplesHG00514
Known GenesADAM9
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)nssv14438113
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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