A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538340



Internal ID15508973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:30407579..30500157hg38UCSC Ensembl
Innerchr5:30407686..30500264hg19UCSC Ensembl
Innerchr5:30443443..30536021hg18UCSC Ensembl
Innerchr5:30443443..30536021hg17UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3892579
hg1992579
hg1892579
hg1792579
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462087
Supporting Variants
SamplesHGDP00926
Known Genes
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)nssv538340
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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