A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5616489



Internal ID21564794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:62244080..62244080hg38UCSC Ensembl
chr1:62709752..62709752hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38349
hg19349
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17066050
SamplesHG03486
Known GenesKANK4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5616489
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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