A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542536



Internal ID15157420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46239982..46332377hg38UCSC Ensembl
Innerchr10:47611218..47703613hg19UCSC Ensembl
Innerchr10:47081224..47173619hg18UCSC Ensembl
Innerchr10:47081224..47173619hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3892396
hg1992396
hg1892396
hg1792396
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467186
Supporting Variants
Samples1780862564_A
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)nssv542536
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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