A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16925749



Internal ID17915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230435618..230443618hg38UCSC Ensembl
chr2:231300333..231308333hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg388001
hg198001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5434896
Supporting Variants
Samples
Known GenesSP100
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16925749
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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