A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228709



Internal ID22370803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:95080400..95080489hg38UCSC Ensembl
chr8:96092628..96092717hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9259n152
Supporting Variantsnssv14377440, nssv14455659
SamplesNA19240, HG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228709
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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