A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5960709



Internal ID22735679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:167483016..167483016hg38UCSC Ensembl
chr1:167452253..167452253hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17363118
Samples
Known GenesCD247
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5960709
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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