A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14321888



Internal ID22283065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78358354..78358354hg38UCSC Ensembl
chr5:77654178..77654178hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3564232
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14321888
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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