A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550748



Internal ID15991471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46172086..46297471hg38UCSC Ensembl
Innerchr10:47543322..47668707hg19UCSC Ensembl
Innerchr10:47013328..47138713hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38125386
hg19125386
hg18125386
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1109n54
Supporting Variantsnssv1173601
SamplesHGDP00143
Known GenesANTXRL, ANTXRLP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550748
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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