A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5830121



Internal ID22605056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:65542527..65545289hg38UCSC Ensembl
chr1:66008210..66010972hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg382763
hg192763
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17480165, nssv17480164
Samples
Known GenesLEPR
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5830121
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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