A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16994632



Internal ID63856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:28981513..28981564hg38UCSC Ensembl
chr7:29021129..29021180hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5400220
Supporting Variants
Samples
Known GenesLOC100506497
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16994632
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001561


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