A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16898539



Internal ID173163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230232129..230289748hg38UCSC Ensembl
chr1:230367875..230425494hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3857620
hg1957620
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5447119
Supporting Variants
Samples
Known GenesGALNT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16898539
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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