A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17858580



Internal ID22042223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:151190749..151190749hg38UCSC Ensembl
chr5:150570310..150570310hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6256302
Supporting Variants
Samples
Known GenesCCDC69
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17858580
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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