A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17045417



Internal ID98034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:48069192..48076943hg38UCSC Ensembl
chr11:48090744..48098495hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg387752
hg197752
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5508786
Supporting Variants
Samples
Known GenesPTPRJ
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17045417
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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