A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17480164



Internal ID22538067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:65542527..65545289hg38UCSC Ensembl
chr1:66008210..66010972hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg382763
hg192763
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5830121
Supporting Variants
Samples
Known GenesLEPR
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17480164
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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