A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3942253



Internal ID21362323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1450687..1450925hg38UCSC Ensembl
chr16:1500688..1500926hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15184158
SamplesHG002
Known GenesCLCN7
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3942253
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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