A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6463529



Internal ID21121082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:105131015..105133372hg38UCSC Ensembl
chr12:105524793..105527150hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg382358
hg192358
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17995950
Samples
Known GenesKIAA1033
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6463529
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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