A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16888974



Internal ID166707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:117784771..117792432hg38UCSC Ensembl
chr1:118327393..118335054hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg387662
hg197662
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5428999
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16888974
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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