A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6467030



Internal ID21124583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:75575110..75579896hg38UCSC Ensembl
chr12:75968890..75973676hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg384787
hg194787
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18003607
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6467030
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