A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5892280



Internal ID22667328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:152133854..152134000hg38UCSC Ensembl
chr6:152454989..152455135hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17424402
Samples
Known GenesSYNE1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5892280
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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