A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16892677



Internal ID169295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:178799345..178799386hg38UCSC Ensembl
chr1:178768480..178768521hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5539441
Supporting Variants
Samples
Known GenesRALGPS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16892677
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001249


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