A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496078



Internal ID273164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:22686736..22843154hg38UCSC Ensembl
chr14:23155945..23312363hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38156419
hg19156419
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17693922
Samples
Known GenesMMP14, MRPL52, OXA1L, SLC7A7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496078
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer