A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16925875



Internal ID18002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233836830..233836830hg38UCSC Ensembl
chr2:234745476..234745476hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg381
hg191
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5561534
Supporting Variants
Samples
Known GenesHJURP
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16925875
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000156


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