A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6343051



Internal ID21000604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:229439568..229856557hg38UCSC Ensembl
chr2:230304284..230721273hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38416990
hg19416990
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206167
Samples
Known GenesDNER, TRIP12
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6343051
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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