A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211007



Internal ID22358708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:100701824..100703341hg38UCSC Ensembl
chr8:101714052..101715569hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg381518
hg191518
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14342141, nssv14342139, nssv14342140
SamplesHG00512, HG00513, HG00514
Known GenesMIR7705, PABPC1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211007
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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