A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18183955



Internal ID20750995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10027094..10221547hg38UCSC Ensembl
chr12:10179693..10374146hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38194454
hg19194454
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6457501
Supporting Variants
Samples
Known GenesCLEC1A, CLEC7A, CLEC9A, GABARAPL1, OLR1, TMEM52B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18183955
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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