A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17065972



Internal ID21476402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47359374..47359374hg38UCSC Ensembl
chr1:47825046..47825046hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5615703
Supporting Variants
SamplesHG03486
Known GenesCMPK1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17065972
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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