A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6342998



Internal ID21000551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:30823265..30823880hg38UCSC Ensembl
chr2:31046131..31046746hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg38616
hg19616
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18208192
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6342998
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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