A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538228



Internal ID15509293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:1370717..1394407hg38UCSC Ensembl
Innerchr5:1370832..1394522hg19UCSC Ensembl
Innerchr5:1423832..1447522hg18UCSC Ensembl
Innerchr5:1423832..1447522hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3823691
hg1923691
hg1823691
hg1723691
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461908
Supporting Variants
SamplesHGDP00971
Known GenesSLC6A3
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)nssv538228
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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