A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16890814



Internal ID168048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:153070587..153093400hg38UCSC Ensembl
chr1:153043063..153065876hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3822814
hg1922814
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5417997
Supporting Variants
Samples
Known GenesSPRR2B, SPRR2E
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16890814
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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