A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14319929



Internal ID22284113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1060898..1061233hg38UCSC Ensembl
chr5:1061013..1061348hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38336
hg19336
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197381
Supporting Variants
SamplesNA19239
Known GenesSLC12A7
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14319929
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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