A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14344236



Internal ID22197347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:121936815..121936815hg38UCSC Ensembl
chr8:122949054..122949054hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3565197
Supporting Variants
SamplesHG00731
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14344236
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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