A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16966490



Internal ID44986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42430649..42433517hg38UCSC Ensembl
chr5:42430751..42433619hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg382869
hg192869
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5560326
Supporting Variants
Samples
Known GenesGHR
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16966490
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000156


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