A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975337



Internal ID22750272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:21277270..21277270hg38UCSC Ensembl
chr12:21430204..21430204hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17350231
Samples
Known GenesSLCO1A2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975337
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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