A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17997298



Internal ID20564338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124913013..124913241hg38UCSC Ensembl
chr12:125397559..125397787hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38229
hg19229
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6485432
Supporting Variants
Samples
Known GenesUBC
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17997298
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.01346


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