A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14376446



Internal ID22125878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:100286901..100289050hg38UCSC Ensembl
chr14:100753238..100755387hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg382150
hg192150
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226289
Supporting Variants
SamplesHG00512
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14376446
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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