A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16889251



Internal ID166926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:114902452..114902814hg38UCSC Ensembl
chr1:115445073..115445435hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38363
hg19363
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5422726
Supporting Variants
Samples
Known GenesSYCP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16889251
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.040899


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