A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16906273



Internal ID4978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:5003214..5003811hg38UCSC Ensembl
chr1:5063274..5063871hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38598
hg19598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5423704
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16906273
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.005151


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