A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16891591



Internal ID168586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:166944142..166945393hg38UCSC Ensembl
chr1:166913379..166914630hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg381252
hg191252
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5425220
Supporting Variants
Samples
Known GenesILDR2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16891591
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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