A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4431425



Internal ID21393427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:107590275..107591274hg38UCSC Ensembl
chr11:107461001..107462000hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15749933, nssv15747915, nssv15753780, nssv15750053, nssv15747419, nssv15751884, nssv15747288
SamplesSMI034, NB08, BTQ038, BTQ055, NB11, SMI018, NB09
Known GenesELMOD1
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4431425
Frequency
Sample Size15
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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