A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17840943



Internal ID22024586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137785507..137785507hg38UCSC Ensembl
chr9:140679959..140679959hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38221
hg19221
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6240288
Supporting Variants
Samples
Known GenesEHMT1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17840943
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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