A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16902204



Internal ID2269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45989257..45990389hg38UCSC Ensembl
chr1:46454929..46456061hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg381133
hg191133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5429910
Supporting Variants
Samples
Known GenesMAST2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16902204
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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