A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16904719



Internal ID3967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:77045535..77046003hg38UCSC Ensembl
chr1:77511220..77511688hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38469
hg19469
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5421999
Supporting Variants
Samples
Known GenesST6GALNAC5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16904719
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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