A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6475893



Internal ID21133446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123590789..123591587hg38UCSC Ensembl
chr12:124075336..124076134hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38799
hg19799
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17998805
Samples
Known GenesTMED2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6475893
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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