A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6462750



Internal ID21120303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:114530888..114735901hg38UCSC Ensembl
chr11:114401610..114606623hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg38205014
hg19205014
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17986916
Samples
Known GenesNXPE1, NXPE2, NXPE4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6462750
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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