A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18185218



Internal ID20752258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:13898801..13913733hg38UCSC Ensembl
chr12:14051735..14066667hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg3814933
hg1914933
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6456301
Supporting Variants
Samples
Known GenesGRIN2B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18185218
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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