A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4432579



Internal ID21394581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:69091281..69091821hg38UCSC Ensembl
chr17:67087422..67087962hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38541
hg19541
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15747295
SamplesNB10
Known GenesABCA6
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4432579
Frequency
Sample Size15
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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