A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16909717



Internal ID7250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11618053..11618103hg38UCSC Ensembl
chr2:11758179..11758229hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5534169
Supporting Variants
Samples
Known GenesGREB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16909717
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002185


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