A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556861



Internal ID15997584
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 StatusM
Merged Variants
Supporting Variantsnssv785844
Samples
Known GenesSLC6A12, SLC6A13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556861
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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