A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16951031



Internal ID34714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:53245686..53254002hg38UCSC Ensembl
chr4:54111853..54120169hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg388317
hg198317
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5459526
Supporting Variants
Samples
Known GenesSCFD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16951031
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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