A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14322237



Internal ID22172217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55898602..55898671hg38UCSC Ensembl
chr5:55194430..55194499hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202688
Supporting Variants
SamplesHG00514
Known GenesIL31RA
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14322237
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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