A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204503



Internal ID22353342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:172689362..172689634hg38UCSC Ensembl
chr3:172407152..172407424hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg38273
hg19273
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14310646, nssv14310645
SamplesNA19239, HG00733
Known GenesNCEH1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204503
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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