A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16999690



Internal ID67377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:95036352..95036403hg38UCSC Ensembl
chr7:94665664..94665715hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5398213
Supporting Variants
Samples
Known GenesPPP1R9A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16999690
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer