A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3288769



Internal ID22387185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:95824108..95824227hg38UCSC Ensembl
chr8:96836336..96836455hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14376477, nssv14457597, nssv14438543
SamplesNA19240, HG00733, HG00514
Known Genes
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)nsv3288769
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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