A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17704773



Internal ID128439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:21295525..21299226hg38UCSC Ensembl
chr16:21306846..21310547hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg383702
hg193702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5520207
Supporting Variants
Samples
Known GenesCRYM
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17704773
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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