A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5885017



Internal ID22660001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225848585..225865585hg38UCSC Ensembl
chr1:226036286..226053285hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3817001
hg1917000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17352585
Samples
Known GenesTMEM63A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5885017
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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