A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4432503



Internal ID21394505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31416464..31417669hg38UCSC Ensembl
chr17:29743482..29744687hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381206
hg191206
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15745632
SamplesSMI018
Known GenesRAB11FIP4
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4432503
Frequency
Sample Size15
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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