A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17368507



Internal ID22594176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110383797..110384124hg38UCSC Ensembl
chr12:110821602..110821929hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5936890
Supporting Variants
Samples
Known GenesANAPC7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17368507
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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