A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504669



Internal ID281467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56292270..56292816hg38UCSC Ensembl
chr12:56686054..56686600hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38547
hg19547
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17057633
Samples
Known GenesCS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504669
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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