A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5901416



Internal ID22676566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:5705312..5710558hg38UCSC Ensembl
chr6:5705545..5710791hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg385247
hg195247
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17447769
Samples
Known GenesFARS2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5901416
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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