A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5879951



Internal ID22654922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226978144..226978948hg38UCSC Ensembl
chr1:227165845..227166649hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38805
hg19805
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17368683
Samples
Known GenesADCK3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5879951
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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