A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17467884



Internal ID22525774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132758815..132762682hg38UCSC Ensembl
chr12:133335401..133339268hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg383868
hg193868
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5861036
Supporting Variants
Samples
Known GenesANKLE2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17467884
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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