A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17858348



Internal ID22041991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:14796490..14796490hg38UCSC Ensembl
chr5:14796599..14796599hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6256004
Supporting Variants
Samples
Known GenesANKH
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17858348
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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