A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17839759



Internal ID22023402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:122327828..122327828hg38UCSC Ensembl
chr7:121967882..121967882hg19UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6239662
Supporting Variants
Samples
Known GenesCADPS2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17839759
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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