A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14386875



Internal ID22142609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:85643001..85655200hg38UCSC Ensembl
chr16:85676607..85688806hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg3812200
hg1912200
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213140
Supporting Variants
SamplesHG00513
Known GenesGSE1, MIR7851
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14386875
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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