A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559831



Internal ID16000554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:95627257..95680547hg38UCSC Ensembl
Innerchr12:96021033..96074323hg19UCSC Ensembl
Innerchr12:94545164..94598454hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3853291
hg1953291
hg1853291
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175737
SamplesHGDP00952
Known GenesNTN4, PGAM1P5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559831
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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