A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14383626



Internal ID22283596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29903076..29903452hg38UCSC Ensembl
chr16:29914397..29914773hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38377
hg19377
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230332
Supporting Variants
SamplesNA19239
Known GenesASPHD1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14383626
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer