A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6472998



Internal ID21130551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:60943394..60946685hg38UCSC Ensembl
chr11:60710866..60714157hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg383292
hg193292
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17992670
Samples
Known GenesSLC15A3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6472998
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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