A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17693848



Internal ID117514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21250884..21252710hg38UCSC Ensembl
chr14:21719043..21720869hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg381827
hg191827
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5494084
Supporting Variants
Samples
Known GenesHNRNPC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17693848
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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