A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16270323



Internal ID20479541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132730335..132730397hg38UCSC Ensembl
chr12:133306921..133306983hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4742450
Supporting Variants
Samples
Known GenesANKLE2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16270323
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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