A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514892



Internal ID291380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:21286242..21286333hg38UCSC Ensembl
chr16:21297563..21297654hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17704772
Samples
Known GenesCRYM
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514892
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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