A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17841995



Internal ID22025638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:127217991..127217991hg38UCSC Ensembl
chr9:129980270..129980270hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6240244
Supporting Variants
Samples
Known GenesRALGPS1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17841995
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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