A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560544



Internal ID16001267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:124499379..124520596hg38UCSC Ensembl
Innerchr12:124983925..125005142hg19UCSC Ensembl
Innerchr12:123549878..123571095hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3821218
hg1921218
hg1821218
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175742
SamplesHGDP00438
Known GenesNCOR2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560544
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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