A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6469476



Internal ID21127029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:80910001..80911000hg38UCSC Ensembl
chr12:81303780..81304779hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18003689
Samples
Known GenesLIN7A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6469476
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