A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5876505



Internal ID22651466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229453222..229453403hg38UCSC Ensembl
chr1:229588969..229589150hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38182
hg19182
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17356841
Samples
Known GenesNUP133
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5876505
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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