A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557741



Internal ID15998464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:21425625..22016920hg38UCSC Ensembl
Innerchr12:21578559..22169854hg19UCSC Ensembl
Innerchr12:21469826..22061121hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38591296
hg19591296
hg18591296
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175444
SamplesHGDP00468
Known GenesABCC9, C12orf39, GOLT1B, GYS2, KCNJ8, LDHB, PYROXD1, RECQL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557741
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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