A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17379096



Internal ID22436966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:49785021..49786123hg38UCSC Ensembl
chr16:49818932..49820034hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg381103
hg191103
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5933273
Supporting Variants
Samples
Known GenesZNF423
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17379096
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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