A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226134



Internal ID22369047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:100098840..100098901hg38UCSC Ensembl
chr8:101111068..101111129hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14342121
SamplesHG00732
Known GenesRGS22
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226134
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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