A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17482430



Internal ID22540335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:88796456..88819917hg38UCSC Ensembl
chr1:89262139..89285600hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3823462
hg1923462
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5830698
Supporting Variants
Samples
Known GenesPKN2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17482430
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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