A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17046029



Internal ID98475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:30476081..30476132hg38UCSC Ensembl
chr11:30497628..30497679hg19UCSC Ensembl
Cytoband11p14.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5402206
Supporting Variants
Samples
Known GenesMPPED2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17046029
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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