A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559152



Internal ID15999875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:61998767..62001993hg38UCSC Ensembl
Innerchr12:62392548..62395774hg19UCSC Ensembl
Innerchr12:60678815..60682041hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg383227
hg193227
hg183227
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv797467
Samples
Known GenesFAM19A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559152
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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