A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16975223



Internal ID50868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:154310424..154314364hg38UCSC Ensembl
chr5:153689984..153693924hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg383941
hg193941
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5472610
Supporting Variants
Samples
Known GenesGALNT10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16975223
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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