A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14321763



Internal ID22227040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115633683..115634126hg38UCSC Ensembl
chr5:114969380..114969823hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg38444
hg19444
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197156
Supporting Variants
SamplesHG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14321763
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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