A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559644



Internal ID16000367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:84791617..84863666hg38UCSC Ensembl
Innerchr12:85185396..85257445hg19UCSC Ensembl
Innerchr12:83709527..83781576hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3872050
hg1972050
hg1872050
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv799935
Samples
Known GenesSLC6A15
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559644
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