A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6459475



Internal ID21117028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47948178..47954201hg38UCSC Ensembl
chr12:48341961..48347984hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg386024
hg196024
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18001051
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6459475
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