A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542378



Internal ID15162001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46172086..46324850hg38UCSC Ensembl
Innerchr10:47543322..47696086hg19UCSC Ensembl
Innerchr10:47013328..47166092hg18UCSC Ensembl
Innerchr10:47013328..47166092hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38152765
hg19152765
hg18152765
hg17152765
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466941
Supporting Variants
SamplesHGDP00884
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)nssv542378
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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