A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6488633



Internal ID21146186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:77606457..79139611hg38UCSC Ensembl
chr14:78072800..79605954hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg381533155
hg191533155
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18188500
Samples
Known GenesADCK1, ALKBH1, C14orf178, NRXN3, SLIRP, SNW1, SPTLC2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6488633
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