A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6354013



Internal ID21011566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86055590..86283809hg38UCSC Ensembl
chr2:86282713..86510932hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38228220
hg19228220
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206454
Samples
Known GenesIMMT, MIR4779, MRPL35, POLR1A, PTCD3, REEP1, SNORD94
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6354013
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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