A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540120



Internal ID15159702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:159891127..159938603hg38UCSC Ensembl
Innerchr1:159860917..159908393hg19UCSC Ensembl
Innerchr1:158127541..158175017hg18UCSC Ensembl
Innerchr1:156673990..156721466hg17UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg3847477
hg1947477
hg1847477
hg1747477
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464150
Supporting Variants
SamplesHGDP00473
Known GenesCCDC19, IGSF9, TAGLN2
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)nssv540120
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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