A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559102



Internal ID15999825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:59770627..59828117hg38UCSC Ensembl
Innerchr12:60164408..60221898hg19UCSC Ensembl
Innerchr12:58450675..58508165hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3857491
hg1957491
hg1857491
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv796727
Samples
Known GenesSLC16A7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559102
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