A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6345949



Internal ID21003502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:39035937..39400116hg38UCSC Ensembl
chr2:39263078..39627257hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38364180
hg19364180
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206942
Samples
Known GenesCDKL4, MAP4K3, SOS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6345949
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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