A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16991970



Internal ID62092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:8030022..8030038hg38UCSC Ensembl
chr7:8069652..8069668hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38172
hg19172
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5397783
Supporting Variants
Samples
Known GenesGLCCI1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16991970
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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