A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17044964



Internal ID97723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:43671607..43671642hg38UCSC Ensembl
chr11:43693157..43693192hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5560327
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17044964
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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