A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6021807



Internal ID21931150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6369284..6369353hg38UCSC Ensembl
chr12:6478450..6478519hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17603680
Samples
Known GenesSCNN1A
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6021807
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer