A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6344554



Internal ID21002107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:60763678..60876163hg38UCSC Ensembl
chr2:60990813..61103298hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38112486
hg19112486
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206363
Samples
Known GenesFLJ16341, PAPOLG
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6344554
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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