A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5997753



Internal ID21907096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:56813698..56813760hg38UCSC Ensembl
chr4:57679864..57679926hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17549928
Samples
Known GenesSPINK2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5997753
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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