A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560557



Internal ID16347966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:124540407..124541268hg38UCSC Ensembl
Innerchr12:125024953..125025814hg19UCSC Ensembl
Innerchr12:123590906..123591767hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38862
hg19862
hg18862
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2936n54
Supporting Variantsnssv803969
Samples
Known GenesNCOR2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560557
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