A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6341450



Internal ID20999003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:55692101..55718100hg38UCSC Ensembl
chr2:55919236..55945235hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3826000
hg1926000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3882n223
Supporting Variantsnssv18206294
Samples
Known GenesPNPT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6341450
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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