A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225748



Internal ID22368785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:41157886..41157949hg38UCSC Ensembl
chr8:41015405..41015468hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14341348, nssv14341349, nssv14341350, nssv14341351, nssv14341347
SamplesHG00512, NA19239, HG00732, HG00733, HG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225748
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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