A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497952



Internal ID274965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120734911..120750542hg38UCSC Ensembl
chr12:121172714..121188345hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3815632
hg1915632
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684929
Samples
Known GenesACADS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497952
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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