A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5460233



Internal ID238224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140428836..140428892hg38UCSC Ensembl
chr5:139808421..139808477hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974477
Samples
Known GenesANKHD1, ANKHD1-EIF4EBP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5460233
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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