A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550780



Internal ID15991503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46224041..46325790hg38UCSC Ensembl
Innerchr10:47595277..47697026hg19UCSC Ensembl
Innerchr10:47065283..47167032hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38101750
hg19101750
hg18101750
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1115n54
Supporting Variantsnssv747553, nssv747552, nssv1174511, nssv1174512, nssv747551, nssv747554
SamplesNINDS_221, NINDS_249
Known GenesANTXRL, ANTXRLP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550780
Frequency
Sample Size17421
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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