A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6483948



Internal ID21141501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132728506..132758717hg38UCSC Ensembl
chr12:133305092..133335303hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3830212
hg1930212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17999331
Samples
Known GenesANKLE2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6483948
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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