A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5494060



Internal ID271219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:2977493..3015199hg38UCSC Ensembl
chr11:2998723..3036429hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3837707
hg1937707
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17042130
Samples
Known GenesCARS, NAP1L4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5494060
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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