A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6476575



Internal ID21134128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110001023..110010055hg38UCSC Ensembl
chr12:110438828..110447860hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg389033
hg199033
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17996894
Samples
Known GenesANKRD13A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6476575
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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