A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5981649



Internal ID21890992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:15699908..15843225hg38UCSC Ensembl
chr1:16026403..16169720hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38143318
hg19143318
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17528772
Samples
Known GenesFBLIM1, FLJ37453, PLEKHM2, SLC25A34, TMEM82, UQCRHL
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5981649
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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