A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6505020



Internal ID20878286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8268958..8288147hg38UCSC Ensembl
chr17:8172276..8191465hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3819190
hg1919190
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18038334
Samples
Known GenesPFAS, SLC25A35
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6505020
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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