A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5849007



Internal ID22623942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132724912..132728461hg38UCSC Ensembl
chr12:133301498..133305047hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg383550
hg193550
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17457387
Samples
Known GenesANKLE2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5849007
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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