A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5868707



Internal ID22643642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:218422697..218427573hg38UCSC Ensembl
chr1:218596039..218600915hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg384877
hg194877
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17365156
Samples
Known GenesTGFB2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5868707
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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