A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214669



Internal ID22361256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:38153951..38158050hg38UCSC Ensembl
chr8:38011469..38015568hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg384100
hg194100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14341222, nssv14341219, nssv14341217, nssv14341220, nssv14341224, nssv14341223, nssv14341225, nssv14341218, nssv14341221
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214669
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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