A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557398



Internal ID16344807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9461425..9561734hg38UCSC Ensembl
Innerchr12:9614021..9714330hg19UCSC Ensembl
Innerchr12:9505288..9605597hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38100310
hg19100310
hg18100310
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2349n54
Supporting Variantsnssv787535
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557398
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