A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5869584



Internal ID22644519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:48446640..48512086hg38UCSC Ensembl
chr1:48912312..48977758hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3865447
hg1965447
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17380046
Samples
Known GenesSPATA6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5869584
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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