A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18184608



Internal ID20751648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30948943..30980439hg38UCSC Ensembl
chr12:31101877..31133374hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3831497
hg1931498
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6472291
Supporting Variants
Samples
Known GenesTSPAN11
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18184608
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00023


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