A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5510182



Internal ID286808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:2977068..2977171hg38UCSC Ensembl
chr11:2998298..2998401hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17042129
Samples
Known GenesNAP1L4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5510182
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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