A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17695122



Internal ID118788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:44356976..44517345hg38UCSC Ensembl
chr14:44826179..44986548hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38160370
hg19160370
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143394
Supporting Variants
Samples
Known GenesFSCB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17695122
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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