A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5484297



Internal ID261712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:91278902..91290967hg38UCSC Ensembl
chr8:92291130..92303195hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3812066
hg1912066
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17015564
Samples
Known GenesSLC26A7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5484297
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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