A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2792281



Internal ID21237619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132149491..132149491hg38UCSC Ensembl
chr12:132634036..132634036hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13684410
Samples
Known GenesNOC4L
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2792281
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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