A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512970



Internal ID289510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:47174198..47174261hg38UCSC Ensembl
chr11:47195749..47195812hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17045767
Samples
Known GenesARFGAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512970
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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