A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5509148



Internal ID285812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29154723..29154821hg38UCSC Ensembl
chr12:29307656..29307754hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056955
Samples
Known GenesFAR2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5509148
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