A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6617848



Internal ID20990919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:129041290..129056049hg38UCSC Ensembl
chr6:129362435..129377194hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg3814760
hg1914760
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18215535
Samples
Known GenesLAMA2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6617848
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