A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225440



Internal ID22368565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4820133..4820457hg38UCSC Ensembl
chr17:4723428..4723752hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14391935
SamplesNA19239
Known GenesPLD2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225440
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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