A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17032743



Internal ID89521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:43225043..43225123hg38UCSC Ensembl
chr10:43720491..43720571hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5486576
Supporting Variants
Samples
Known GenesRASGEF1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17032743
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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