A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5829382



Internal ID22604317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225848587..225862946hg38UCSC Ensembl
chr1:226036288..226050646hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3814360
hg1914359
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17469474
Samples
Known GenesTMEM63A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5829382
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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