A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5875168



Internal ID22650124
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 StatusM
Merged Variants
Supporting Variantsnssv17382406
Samples
Known GenesLEPR, LEPROT
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5875168
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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