A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4432612



Internal ID21394614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80018212..80027042hg38UCSC Ensembl
chr17:77992011..78000841hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg388831
hg198831
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv327n172
Supporting Variantsnssv15749037, nssv15754140
SamplesSMI041, SMI018
Known GenesTBC1D16
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4432612
Frequency
Sample Size15
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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