A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6471085



Internal ID21128638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:46549972..46553009hg38UCSC Ensembl
chr11:46571522..46574559hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg383038
hg193038
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17991774
Samples
Known GenesAMBRA1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6471085
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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