A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18001362



Internal ID20568402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:44796091..44796572hg38UCSC Ensembl
chr12:45189874..45190355hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38482
hg19482
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6473756
Supporting Variants
Samples
Known GenesNELL2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18001362
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00013


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