A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18196010



Internal ID20763050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:84785495..85354199hg38UCSC Ensembl
chr12:85179274..85747977hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38568705
hg19568704
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6471334
Supporting Variants
Samples
Known GenesALX1, LRRIQ1, SLC6A15, TSPAN19
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18196010
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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