A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14324148



Internal ID22282778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:181273125..181288654hg38UCSC Ensembl
chr5:180700126..180715655hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3815530
hg1915530
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202216
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14324148
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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