A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5942140



Internal ID22717573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2238872..2238949hg38UCSC Ensembl
chr17:2142166..2142243hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17388405
Samples
Known GenesSMG6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5942140
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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