A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16992889



Internal ID62720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:21503415..21503466hg38UCSC Ensembl
chr7:21543033..21543084hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5400296
Supporting Variants
Samples
Known GenesSP4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16992889
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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