A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16894911



Internal ID170780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13408485..13415261hg38UCSC Ensembl
chr1:13734942..13741718hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg386777
hg196777
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5431382
Supporting Variants
Samples
Known GenesPRAMEF20
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16894911
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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