A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557700



Internal ID16345109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:20193449..20226776hg38UCSC Ensembl
Innerchr12:20346383..20379710hg19UCSC Ensembl
Innerchr12:20237650..20270977hg18UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg3833328
hg1933328
hg1833328
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv789510
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557700
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