A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17042130



Internal ID95793
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 StatusS
Merged Variantsnsv5494060
Supporting Variants
Samples
Known GenesCARS, NAP1L4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17042130
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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