A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547566



Internal ID15988289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:112705743..112759035hg38UCSC Ensembl
Innerchr1:113248365..113301657hg19UCSC Ensembl
Innerchr1:113049888..113103180hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3853293
hg1953293
hg1853293
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv722699
Samples
Known GenesFAM19A3, PPM1J, RHOC
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547566
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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