A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466939



Internal ID15180318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46172086..46297471hg38UCSC Ensembl
Innerchr10:47543322..47668707hg19UCSC Ensembl
Innerchr10:47013328..47138713hg18UCSC Ensembl
Innerchr10:47013328..47138713hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38125386
hg19125386
hg18125386
hg17125386
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv85n27
Supporting Variantsnssv542376
SamplesHGDP00143
Known GenesANTXRL, ANTXRLP1
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv466939
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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