A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5949455



Internal ID22724904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215646380..215646380hg38UCSC Ensembl
chr1:215819722..215819722hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38251
hg19251
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17350036
Samples
Known GenesUSH2A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5949455
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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