A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16902125



Internal ID2208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45012910..45013963hg38UCSC Ensembl
chr1:45478582..45479635hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg381054
hg191054
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5423757
Supporting Variants
Samples
Known GenesUROD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16902125
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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