A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6474456



Internal ID21132009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:75060552..75061180hg38UCSC Ensembl
chr12:75454332..75454960hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38629
hg19629
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18003332
Samples
Known GenesKCNC2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6474456
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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