A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14387740



Internal ID22182612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48616898..48617425hg38UCSC Ensembl
chr16:48650809..48651336hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38528
hg19528
Variant TypeOTHER sequence alteration
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3558174
Supporting Variants
SamplesHG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14387740
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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