A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17603276



Internal ID21795323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:77888915..77891699hg38UCSC Ensembl
chr12:78282695..78285479hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg382785
hg192785
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6028031
Supporting Variants
Samples
Known GenesNAV3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17603276
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