A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6344676



Internal ID21002229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227666851..227728391hg38UCSC Ensembl
chr2:228531567..228593107hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3861541
hg1961541
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206151
Samples
Known GenesSLC19A3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6344676
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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