A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542234



Internal ID15507509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:20168460..20207341hg38UCSC Ensembl
Innerchr10:20457389..20496270hg19UCSC Ensembl
Innerchr10:20497395..20536276hg18UCSC Ensembl
Innerchr10:20497395..20536276hg17UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg3838882
hg1938882
hg1838882
hg1738882
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466768
Supporting Variants
SamplesHGDP00671
Known GenesPLXDC2
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)nssv542234
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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