A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210701



Internal ID22358517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30355428..30356117hg38UCSC Ensembl
chr8:30212944..30213633hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38690
hg19690
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14340396, nssv14340397, nssv14340395
SamplesHG00512, NA19238, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210701
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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