A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5882813



Internal ID22657790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93168562..93169773hg38UCSC Ensembl
chr1:93634119..93635330hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381212
hg191212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17390635
Samples
Known GenesTMED5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5882813
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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