A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18001266



Internal ID20568306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50541810..50543681hg38UCSC Ensembl
chr12:50935593..50937464hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381872
hg191872
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6456866
Supporting Variants
Samples
Known GenesDIP2B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18001266
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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