A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17996645



Internal ID20563685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10017118..10017453hg38UCSC Ensembl
chr12:10169717..10170052hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38336
hg19336
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6460883
Supporting Variants
Samples
Known GenesCLEC12B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17996645
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00126


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