A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6351677



Internal ID21009230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:229629219..229792478hg38UCSC Ensembl
chr2:230493935..230657194hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38163260
hg19163260
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206168
Samples
Known GenesDNER, TRIP12
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6351677
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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