A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560547



Internal ID16001270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:124537169..124541785hg38UCSC Ensembl
Innerchr12:125021715..125026331hg19UCSC Ensembl
Innerchr12:123587668..123592284hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg384617
hg194617
hg184617
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2935n54
Supporting Variantsnssv803902, nssv803901
Samples
Known GenesNCOR2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560547
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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