A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17996892



Internal ID20563932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109975835..109978777hg38UCSC Ensembl
chr12:110413640..110416582hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg382943
hg192943
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6480090
Supporting Variants
Samples
Known GenesGIT2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17996892
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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