A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16999544



Internal ID67273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:86725029..86725080hg38UCSC Ensembl
chr7:86354345..86354396hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38189
hg19189
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5403756
Supporting Variants
Samples
Known GenesGRM3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16999544
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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