A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197020



Internal ID22346946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:174704015..174705820hg38UCSC Ensembl
chr4:175625166..175626971hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg381806
hg191806
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14317947, nssv14317944, nssv14317946, nssv14317945
SamplesNA19238, NA19239, HG00731, NA19240
Known GenesGLRA3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197020
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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