A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5536861



Internal ID312272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:56821766..56821772hg38UCSC Ensembl
chr4:57687932..57687938hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16951119
Samples
Known GenesSPINK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5536861
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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