A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6466290



Internal ID21123843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:47563410..47608683hg38UCSC Ensembl
chr11:47584962..47630235hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3845274
hg1945274
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18183534
Samples
Known GenesC1QTNF4, FAM180B, KBTBD4, NDUFS3, PTPMT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6466290
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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