A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16925535



Internal ID17770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:154141362..154164195hg38UCSC Ensembl
chr2:154997875..155020708hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg3822834
hg1922834
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5445117
Supporting Variants
Samples
Known GenesGALNT13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16925535
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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