A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16892182



Internal ID168977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:170669912..170671896hg38UCSC Ensembl
chr1:170639053..170641037hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg381985
hg191985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5420022
Supporting Variants
Samples
Known GenesPRRX1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16892182
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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