A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17047186



Internal ID99299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:74995659..74995695hg38UCSC Ensembl
chr11:74706704..74706740hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38557
hg19557
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5557534
Supporting Variants
Samples
Known GenesNEU3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17047186
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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