A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16905591



Internal ID4535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:89194374..89194425hg38UCSC Ensembl
chr1:89660057..89660108hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5425345
Supporting Variants
Samples
Known GenesGBP4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16905591
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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