A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556853



Internal ID15997576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:136169..201168hg38UCSC Ensembl
Innerchr12:245335..310334hg19UCSC Ensembl
Innerchr12:115596..180595hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3865000
hg1965000
hg1865000
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv785835
Samples
Known GenesIQSEC3, LOC574538, SLC6A12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556853
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