A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6341815



Internal ID20999368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238369579..238382522hg38UCSC Ensembl
chr2:239278220..239291163hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3812944
hg1912944
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18208374
Samples
Known GenesTRAF3IP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6341815
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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