A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18189613



Internal ID20756653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:40561696..40563920hg38UCSC Ensembl
chr12:40955498..40957722hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg382225
hg192225
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6455960
Supporting Variants
Samples
Known GenesMUC19
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18189613
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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