A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242943



Internal ID22375429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:72852205..72859874hg38UCSC Ensembl
chr5:72148032..72155701hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg387670
hg197670
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14321126, nssv14321128, nssv14321127
SamplesHG00731, HG00732, HG00733
Known GenesTNPO1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242943
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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