A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17002808



Internal ID69493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:96145438..96145489hg38UCSC Ensembl
chr7:95774750..95774801hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5407854
Supporting Variants
Samples
Known GenesSLC25A13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17002808
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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