A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv795934



Internal ID16089890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:51820565..51823311hg38UCSC Ensembl
Innerchr12:52214349..52217095hg19UCSC Ensembl
Innerchr12:50500616..50503362hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg382747
hg192747
hg182747
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv558883
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)nssv795934
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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