A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3110519



Internal ID21293785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:57081476..57086509hg38UCSC Ensembl
Innerchr17:55158837..55163870hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg385034
hg195034
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14098550
Samplessample348
Known GenesAKAP1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3110519
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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