A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14320020



Internal ID22205767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:41411872..41411956hg38UCSC Ensembl
chr5:41411974..41412058hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3526971
Supporting Variants
SamplesHG00732
Known GenesPLCXD3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14320020
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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