A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5886724



Internal ID22661713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229527270..229531310hg38UCSC Ensembl
chr1:229663017..229667057hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg384041
hg194041
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17359312
Samples
Known GenesABCB10
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5886724
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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