A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5498454



Internal ID275445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:87781662..87782426hg38UCSC Ensembl
chr12:88175439..88176203hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg38765
hg19765
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17689892
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5498454
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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