A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16910631



Internal ID7860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26975632..26975863hg38UCSC Ensembl
chr2:27198500..27198731hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38232
hg19232
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6139416
Supporting Variants
Samples
Known GenesMAPRE3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16910631
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.008766


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