A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14320062



Internal ID22205775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42740741..42742240hg38UCSC Ensembl
chr5:42740843..42742342hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg381500
hg191500
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196861
Supporting Variants
SamplesHG00732
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14320062
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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