A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17398384



Internal ID22456254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11618102..11618245hg38UCSC Ensembl
chr2:11758228..11758371hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38144
hg19144
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5886431
Supporting Variants
Samples
Known GenesGREB1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17398384
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.17


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