A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6347048



Internal ID21004601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:4993012..4999187hg38UCSC Ensembl
chr2:5133145..5139320hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg386176
hg196176
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18209858
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6347048
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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