A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14342796



Internal ID22182423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:94491159..94491159hg38UCSC Ensembl
chr8:95503387..95503387hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3565326
Supporting Variants
SamplesHG00514
Known GenesKIAA1429
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14342796
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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