A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14321237



Internal ID22235002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31849877..31849988hg38UCSC Ensembl
chr5:31849983..31850094hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3526999
Supporting Variants
SamplesHG00733
Known GenesPDZD2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14321237
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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