A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17483515



Internal ID22541422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:40864965..40866404hg38UCSC Ensembl
chr22:41260969..41262408hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg381440
hg191440
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5875943
Supporting Variants
Samples
Known GenesXPNPEP3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17483515
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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