A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17042129



Internal ID95792
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 StatusS
Merged Variantsnsv5510182
Supporting Variants
Samples
Known GenesNAP1L4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17042129
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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