A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5948341



Internal ID22723825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:119010728..119010728hg38UCSC Ensembl
chr1:119553351..119553351hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg38444
hg19444
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17349748
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5948341
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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