A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5934241



Internal ID22709563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18338015..18338323hg38UCSC Ensembl
chr17:18241329..18241637hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17379333
Samples
Known GenesSHMT1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5934241
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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