A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17467250



Internal ID22525141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:25480890..25484532hg38UCSC Ensembl
chr12:25633824..25637466hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg383643
hg193643
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5852206
Supporting Variants
Samples
Known GenesIFLTD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17467250
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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