A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5875920



Internal ID22650879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:48453129..48471954hg38UCSC Ensembl
chr1:48918801..48937626hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3818826
hg1918826
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17388776
Samples
Known GenesSPATA6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5875920
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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