A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6514598



Internal ID20887953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45110242..45111642hg38UCSC Ensembl
chr17:43187610..43189010hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381401
hg191401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18035889
Samples
Known GenesPLCD3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6514598
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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