A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17848197



Internal ID22031840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28623717..28623717hg38UCSC Ensembl
chr17:26950735..26950735hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6250720
Supporting Variants
Samples
Known GenesKIAA0100
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17848197
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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