A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6474947



Internal ID21132500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:74397601..74469700hg38UCSC Ensembl
chr11:74108646..74180745hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3872100
hg1972100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17993597
Samples
Known GenesKCNE3, PGM2L1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6474947
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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