A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17857453



Internal ID22041096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:116577523..116577523hg38UCSC Ensembl
chr6:116898686..116898686hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6257066
Supporting Variants
Samples
Known GenesRWDD1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17857453
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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