A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3529243



Internal ID22398636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:10005073..10005322hg38UCSC Ensembl
chr8:9862583..9862832hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14341452, nssv14341453, nssv14341455, nssv14341454, nssv14341457, nssv14341456
SamplesHG00512, NA19238, NA19239, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3529243
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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