A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5939450



Internal ID22714844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:11954073..11954143hg38UCSC Ensembl
chr17:11857390..11857460hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17382653
Samples
Known GenesDNAH9
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5939450
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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