A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17685029



Internal ID108695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121784287..121784287hg38UCSC Ensembl
chr12:122222193..122222193hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5545084
Supporting Variants
Samples
Known GenesRHOF
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17685029
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.169991


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