A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6456169



Internal ID21113722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:75415196..75415802hg38UCSC Ensembl
chr12:75808976..75809582hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38607
hg19607
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18003584
Samples
Known GenesGLIPR1L2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6456169
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