A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17839253



Internal ID22022896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:91305457..91305457hg38UCSC Ensembl
chr8:92317685..92317685hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38189
hg19189
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6246307
Supporting Variants
Samples
Known GenesSLC26A7
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17839253
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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