A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560744



Internal ID16001467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:130395238..130790045hg38UCSC Ensembl
Innerchr12:130879783..131274590hg19UCSC Ensembl
Innerchr12:129445736..129840543hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38394808
hg19394808
hg18394808
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv804414
Samples
Known GenesRIMBP2, STX2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560744
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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