A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5426967



Internal ID205881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:167428745..167430874hg38UCSC Ensembl
chr1:167397982..167400111hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg382130
hg192130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892069
Samples
Known GenesCD247
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5426967
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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