A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17849672



Internal ID22033315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:9764078..9764078hg38UCSC Ensembl
chr18:9764075..9764075hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6259202
Supporting Variants
Samples
Known GenesRAB31
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17849672
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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