A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6470162



Internal ID21127715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:43783073..43835043hg38UCSC Ensembl
chr11:43804623..43856593hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3851971
hg1951971
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18182782
Samples
Known GenesHSD17B12
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6470162
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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