A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5615703



Internal ID21564008
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 StatusM
Merged Variants
Supporting Variantsnssv17065972
SamplesHG03486
Known GenesCMPK1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5615703
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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