A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6347271



Internal ID21004824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:55620976..55641427hg38UCSC Ensembl
chr2:55848111..55868562hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3820452
hg1920452
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206284
Samples
Known GenesPNPT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6347271
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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