A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18186096



Internal ID20753136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53029533..53063605hg38UCSC Ensembl
chr12:53423317..53457389hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3834073
hg1934073
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6457219
Supporting Variants
Samples
Known GenesEIF4B, LOC283335, MIR6757, TENC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18186096
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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