A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17374364



Internal ID22600033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:12015639..12015967hg38UCSC Ensembl
chr16:12109496..12109824hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5932158
Supporting Variants
Samples
Known GenesSNX29
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17374364
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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