A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418926



Internal ID198080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:159834549..159837810hg38UCSC Ensembl
chr1:159804339..159807600hg19UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg383262
hg193262
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891327
Samples
Known GenesC1orf204, SLAMF8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418926
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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