A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14381262



Internal ID22141338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:8737990..8737990hg38UCSC Ensembl
chr16:8831847..8831847hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3560846
Supporting Variants
SamplesHG00513
Known GenesABAT
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14381262
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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