A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17062937



Internal ID21454609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:233017335..233017335hg38UCSC Ensembl
chr1:233153081..233153081hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38332
hg19332
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5610272
Supporting Variants
SamplesHG02011
Known GenesPCNXL2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17062937
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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