A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16902534



Internal ID2504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:28544028..28585801hg38UCSC Ensembl
chr1:28870540..28912313hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg3841774
hg1941774
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5432511
Supporting Variants
Samples
Known GenesSNHG12, SNORA16A, SNORA44, SNORA61, SNORD99, TRNAU1AP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16902534
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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