A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16995505



Internal ID64443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44628472..44628491hg38UCSC Ensembl
chr7:44668071..44668090hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38257
hg19257
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5406341
Supporting Variants
Samples
Known GenesOGDH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16995505
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.005308


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