A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6331377



Internal ID20864540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:448043..678882hg38UCSC Ensembl
chr2:448043..678882hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38230840
hg19230840
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18209801
Samples
Known GenesTMEM18
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6331377
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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