A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17839474



Internal ID22023117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:52117445..52117445hg38UCSC Ensembl
chr8:53030005..53030005hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38226
hg19226
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6245984
Supporting Variants
Samples
Known GenesST18
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17839474
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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