A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16910452



Internal ID7738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:31028878..31035310hg38UCSC Ensembl
chr2:31251744..31258176hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg386433
hg196433
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5443550
Supporting Variants
Samples
Known GenesGALNT14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16910452
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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