A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv785844



Internal ID15733114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:184347..251448hg38UCSC Ensembl
Innerchr12:293513..360614hg19UCSC Ensembl
Innerchr12:163774..230875hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3867102
hg1967102
hg1867102
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv556861
Supporting Variants
Samples
Known GenesSLC6A12, SLC6A13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv785844
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