A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17363400



Internal ID22589069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49005363..49005459hg38UCSC Ensembl
chr12:49399146..49399242hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5943880
Supporting Variants
Samples
Known GenesPRKAG1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17363400
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