A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6476781



Internal ID21134334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121279718..121281363hg38UCSC Ensembl
chr12:121717521..121719166hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381646
hg191646
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17997739
Samples
Known GenesCAMKK2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6476781
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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