A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6460680



Internal ID21118233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:555060..568578hg38UCSC Ensembl
chr12:664226..677744hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3813519
hg1913519
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18001790
Samples
Known GenesB4GALNT3, NINJ2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6460680
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