A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14373527



Internal ID22263053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:57933194..57933741hg38UCSC Ensembl
chr16:57967098..57967645hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38548
hg19548
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226706
Supporting Variants
SamplesNA19238
Known GenesCNGB1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14373527
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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