A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5399221



Internal ID178612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:91272663..91272714hg38UCSC Ensembl
chr8:92284891..92284942hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17015561
Samples
Known GenesSLC26A7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5399221
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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