A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5415980



Internal ID195225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16374961..16407171hg38UCSC Ensembl
chr1:16701456..16733666hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3832211
hg1932211
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896600
Samples
Known GenesSPATA21, SZRD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5415980
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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