A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17469474



Internal ID22527364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225848587..225862946hg38UCSC Ensembl
chr1:226036288..226050646hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3814360
hg1914359
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5829382
Supporting Variants
Samples
Known GenesTMEM63A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17469474
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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