A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5618998



Internal ID21567303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:65426143..65426143hg38UCSC Ensembl
chr1:65891826..65891826hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17066358
SamplesNA24385
Known GenesLEPR, LEPROT
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5618998
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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