A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17002892



Internal ID69544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:99410392..99410392hg38UCSC Ensembl
chr7:99008015..99008015hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5544039
Supporting Variants
Samples
Known GenesBUD31
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17002892
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.151418


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