A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17382406



Internal ID22440276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:65426143..65426230hg38UCSC Ensembl
chr1:65891826..65891913hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5875168
Supporting Variants
Samples
Known GenesLEPR, LEPROT
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17382406
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.022


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