A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6340699



Internal ID20998252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:29778940..29784498hg38UCSC Ensembl
chr2:30001806..30007364hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg385559
hg195559
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18209164
Samples
Known GenesALK
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6340699
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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