A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17065930



Internal ID21434421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43593624..43593624hg38UCSC Ensembl
chr1:44059295..44059295hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38479
hg19479
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5608834
Supporting Variants
SamplesHG00731
Known GenesPTPRF
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17065930
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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