A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17368747



Internal ID22594416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123400068..123400280hg38UCSC Ensembl
chr12:123884615..123884827hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38213
hg19213
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5928271
Supporting Variants
Samples
Known GenesSETD8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17368747
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