A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5489209



Internal ID266497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:107796700..107796792hg38UCSC Ensembl
chr7:107437145..107437237hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17004053
Samples
Known GenesSLC26A3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5489209
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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