A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv795923



Internal ID16089879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:51820565..51822032hg38UCSC Ensembl
Innerchr12:52214349..52215816hg19UCSC Ensembl
Innerchr12:50500616..50502083hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381468
hg191468
hg181468
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv558882
Supporting Variants
Samples
Known GenesFIGNL2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv795923
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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