A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5943358



Internal ID22718806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1429110..1430616hg38UCSC Ensembl
chr17:1332404..1333910hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg381507
hg191507
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17370864
Samples
Known GenesCRK
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5943358
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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