A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5507783



Internal ID284493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:61769542..61783101hg38UCSC Ensembl
chr14:62236260..62249819hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3813560
hg1913560
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17698045
Samples
Known GenesSNAPC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5507783
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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