A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16927165



Internal ID18819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241151657..241151708hg38UCSC Ensembl
chr2:242091072..242091123hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5406422
Supporting Variants
Samples
Known GenesPPP1R7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16927165
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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