A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16974333



Internal ID50259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:130346387..130346583hg38UCSC Ensembl
chr5:129682080..129682276hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38197
hg19197
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5460390
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16974333
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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