A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14362007



Internal ID22143970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45348467..45354815hg38UCSC Ensembl
chr1:45814139..45820487hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg386349
hg196349
Variant TypeOTHER sequence alteration
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3232659
Supporting Variants
SamplesHG00514
Known GenesTESK2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14362007
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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