A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17858575



Internal ID22042218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:150620928..150620928hg38UCSC Ensembl
chr5:150000490..150000490hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6244964
Supporting Variants
Samples
Known GenesSYNPO
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17858575
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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