A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16904364



Internal ID3731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:76181154..76186244hg38UCSC Ensembl
chr1:76646839..76651929hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg385091
hg195091
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5424943
Supporting Variants
Samples
Known GenesST6GALNAC3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16904364
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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