A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6480651



Internal ID21138204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121844192..121850925hg38UCSC Ensembl
chr12:122282098..122288831hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg386734
hg196734
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17997808
Samples
Known GenesHPD
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6480651
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