A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502570



Internal ID279431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57835106..57835277hg38UCSC Ensembl
chr12:58228889..58229060hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38172
hg19172
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17057864
Samples
Known GenesCTDSP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502570
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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