A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14317946



Internal ID22281227
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197020
Supporting Variants
SamplesNA19239
Known GenesGLRA3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14317946
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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