A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17360915



Internal ID22586584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132659196..132659247hg38UCSC Ensembl
chr12:133235782..133235833hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5936754
Supporting Variants
Samples
Known GenesPOLE
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17360915
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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