A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16993536



Internal ID63145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:19146202..19146253hg38UCSC Ensembl
chr7:19185825..19185876hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5400284
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16993536
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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