A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18001495



Internal ID20568535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:54266400..54268105hg38UCSC Ensembl
chr12:54660184..54661889hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381706
hg191706
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6467013
Supporting Variants
Samples
Known GenesCBX5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18001495
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00011


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