A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16994506



Internal ID63778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:19723959..19724010hg38UCSC Ensembl
chr7:19763582..19763633hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5400745
Supporting Variants
Samples
Known GenesTMEM196
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16994506
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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