A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537223



Internal ID15160098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:18217290..18231251hg38UCSC Ensembl
Innerchr1:18543784..18557745hg19UCSC Ensembl
Innerchr1:18416371..18430332hg18UCSC Ensembl
Innerchr1:18289090..18303051hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3813962
hg1913962
hg1813962
hg1713962
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460684
Supporting Variants
SamplesHGDP00554
Known GenesIGSF21
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)nssv537223
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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