A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14389613



Internal ID22128915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29705701..29706014hg38UCSC Ensembl
chr16:29717022..29717335hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3528414
Supporting Variants
SamplesHG00512
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14389613
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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