A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6486743



Internal ID21144296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123464101..123469500hg38UCSC Ensembl
chr12:123948648..123954047hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg385400
hg195400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17998794
Samples
Known GenesSNRNP35
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6486743
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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