A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6343818



Internal ID21001371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200695459..200700945hg38UCSC Ensembl
chr2:201560182..201565668hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg385487
hg195487
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18083994
Samples
Known GenesAOX2P
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6343818
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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