A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6338654



Internal ID20996207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232057742..232078138hg38UCSC Ensembl
chr2:232922452..232942848hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3820397
hg1920397
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18208319
Samples
Known GenesDIS3L2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6338654
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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