A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6322629



Internal ID20855742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:165277288..165278565hg38UCSC Ensembl
chr1:165246525..165247802hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg381278
hg191278
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18201932
Samples
Known GenesLMX1A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6322629
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