A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504440



Internal ID281242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:100806825..100806890hg38UCSC Ensembl
chr12:101200603..101200668hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690332
Samples
Known GenesANO4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504440
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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