A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559387



Internal ID16346796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:73711173..73719248hg38UCSC Ensembl
Innerchr12:74104953..74113028hg19UCSC Ensembl
Innerchr12:72391220..72399295hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg388076
hg198076
hg188076
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2713n54
Supporting Variantsnssv798826, nssv798825
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559387
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