A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16908382



Internal ID6381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:94018630..94018712hg38UCSC Ensembl
chr1:94484186..94484268hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5414224
Supporting Variants
Samples
Known GenesABCA4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16908382
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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