A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5950920



Internal ID22726309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:92005005..92005005hg38UCSC Ensembl
chr1:92470562..92470562hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38531
hg19531
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17398028
Samples
Known GenesBRDT
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5950920
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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