A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5942438



Internal ID22717875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75287198..75287323hg38UCSC Ensembl
chr17:73283279..73283404hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17375175
Samples
Known GenesSLC25A19
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5942438
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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