A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6033937



Internal ID21943280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47871259..47871387hg38UCSC Ensembl
chr12:48265042..48265170hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17615074
Samples
Known GenesVDR
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6033937
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