A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6343795



Internal ID21001348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:55683601..55708100hg38UCSC Ensembl
chr2:55910736..55935235hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3824500
hg1924500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3880n223
Supporting Variantsnssv18206290
Samples
Known GenesPNPT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6343795
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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