A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5939580



Internal ID22714975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132724912..132728683hg38UCSC Ensembl
chr12:133301498..133305269hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg383772
hg193772
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17367832
Samples
Known GenesANKLE2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5939580
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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