A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5940881



Internal ID22716295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18359589..18361722hg38UCSC Ensembl
chr17:18262903..18265036hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg382134
hg192134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17385489
Samples
Known GenesSHMT1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5940881
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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