A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221302



Internal ID22365731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56736443..56740893hg38UCSC Ensembl
chr8:57649002..57653452hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg384451
hg194451
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14343291
SamplesHG00731
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221302
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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