A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5437511



Internal ID216096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243315208..243315699hg38UCSC Ensembl
chr1:243478510..243479001hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38492
hg19492
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16899866
Samples
Known GenesSDCCAG8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5437511
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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