A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16908384



Internal ID6383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:94102670..94102867hg38UCSC Ensembl
chr1:94568226..94568423hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38198
hg19198
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5420357
Supporting Variants
Samples
Known GenesABCA4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16908384
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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