A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv795916



Internal ID16089872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:51820565..51821922hg38UCSC Ensembl
Innerchr12:52214349..52215706hg19UCSC Ensembl
Innerchr12:50500616..50501973hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381358
hg191358
hg181358
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv558881
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)nssv795916
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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