A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542188



Internal ID15509538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:3158880..3363335hg38UCSC Ensembl
Innerchr10:3201072..3405527hg19UCSC Ensembl
Innerchr10:3191072..3395527hg18UCSC Ensembl
Innerchr10:3191072..3395527hg17UCSC Ensembl
Cytoband10p15.2
Allele length
AssemblyAllele length
hg38204456
hg19204456
hg18204456
hg17204456
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466711
Supporting Variants
SamplesHGDP01030
Known GenesPITRM1
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)nssv542188
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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