A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18187990



Internal ID20755030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:59560694..61000499hg38UCSC Ensembl
chr12:59954475..61394280hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg381439806
hg191439806
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6464169
Supporting Variants
Samples
Known GenesSLC16A7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18187990
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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