A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6336283



Internal ID20993836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:12921305..12998059hg38UCSC Ensembl
chr2:13061431..13138184hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3876755
hg1976754
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18204038
Samples
Known GenesLOC100506474
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6336283
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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