A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216249



Internal ID22362302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:95080519..95080597hg38UCSC Ensembl
chr8:96092747..96092825hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9260n152
Supporting Variantsnssv14438540, nssv14385163, nssv14467167
SamplesNA19240, HG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216249
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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