A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14321128



Internal ID22235016
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242943
Supporting Variants
SamplesHG00733
Known GenesTNPO1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14321128
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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