A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14387943



Internal ID22258371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:49254388..49255181hg38UCSC Ensembl
chr16:49288299..49289092hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38794
hg19794
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3529645
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14387943
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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