A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230112



Internal ID22371743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:124471440..124475040hg38UCSC Ensembl
chr10:126160009..126163609hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg383601
hg193601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1090n152
Supporting Variantsnssv14355270, nssv14355269
SamplesNA19239, NA19240
Known GenesLHPP
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230112
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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