A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6478520



Internal ID21136073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21018228..21399161hg38UCSC Ensembl
chr14:21486387..21867320hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38380934
hg19380934
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18196401
Samples
Known GenesARHGEF40, CHD8, HNRNPC, LINC00641, MIR6717, NDRG2, OR5AU1, RNASE13, RNASE7, RNASE8, RPGRIP1, SNORD8, SNORD9, SUPT16H, TMEM253, TPPP2, ZNF219
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6478520
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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