A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6144742



Internal ID343947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2825000..3005000hg38UCSC Ensembl
chr19:2824998..3004998hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38180001
hg19180001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17720465
Samples
Known GenesTLE2, TLE6, ZNF554, ZNF555, ZNF556, ZNF57, ZNF77
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6144742
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