A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17857960



Internal ID22041603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:124544861..124544861hg38UCSC Ensembl
chr5:123880554..123880554hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6244789
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17857960
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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