A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229893



Internal ID22371591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56094465..56094523hg38UCSC Ensembl
chr8:57007024..57007082hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14343271
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229893
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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