A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18190052



Internal ID20757092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:81184411..81206366hg38UCSC Ensembl
chr14:81650755..81672710hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg3821956
hg1921956
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6477608
Supporting Variants
Samples
Known GenesGTF2A1, SNORA79
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18190052
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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